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Recessive mutations in the TK2 gene typically cause fatal infantile mitochondrial DNA (mtDNA) depletion syndromes (MDS).1–3 However, the progression of weakness may vary,4 as shown by recently described adult patients with late-onset myopathy.5,6 To date, only 5 adult patients with TK2-related MDS have been reported. Herein, we describe a man who had several unusual features. Clinically, he was weak as a child but sought medical attention as an adult. At the molecular level, multiple mtDNA deletions in muscle were more prominent than mtDNA depletion.
Footnotes
Study funding: This study was supported by NICHD grant HD32062 and by the Marriott Mitochondrial Disorder Clinical Research Fund (MMDCRF). Dr. Paradas is supported by a fellowship (DP-0039-2011) from the Andalusian Government (Consejeria de Salud), Spain.
Author contributions: Drs. C. Paradas, E. Rivas, and P. Carbonell managed patient care and designed the study. Dr. P. Gutiérrez Ríos performed the molecular assays. Drs. M. Hirano and S. DiMauro directed and supervised biochemical and molecular studies and edited the manuscript.
Disclosure: C. Paradas, P. Gutiérrez Ríos, E. Rivas, and P. Carbonell report no disclosures. M. Hirano has received honoraria as a member of the Athena Diagnostics Speakers' Bureau. S. DiMauro receives compensation as a member of the editorial board of MedLink Neurology®. Go to Neurology.org for full disclosures.
Supplemental data at www.neurology.org
- Received July 23, 2012.
- Accepted September 9, 2012.
- © 2013 American Academy of Neurology
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