1型Pontocerebellar发育不全

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.

人类遗传学研究所的(S.R.-S。、j . Senderek式样,K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.