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Symptoms of myoclonus–dystonia (M-D; DYT11) affect mostly proximal muscles of the top half of the body, usually start during childhood or early adolescence, and are often responsive to alcohol.1 Psychiatric abnormalities such as depression have been reported in several families.2,3⇓ M-D follows a pattern of autosomal dominant inheritance but may also occur sporadically. Mutations in the ε-sarcoglycan gene (SGCE) were shown recently to cause M-D in several families.3–7⇓⇓⇓⇓ The human SGCE gene is maternally imprinted, resulting in reduced penetrance when the mutation is inherited from the mother.6
We investigated four families with typical M-D (6 patients, 13 unaffected). The diagnosis of M-D was established according to the recently modified clinical criteria.1 In all families, symptoms predominantly affected the upper half of the body and were alcohol responsive in three families (not tested in Family C). Features of depression were reported in three index cases (Families B, C, and D). Family history was positive in two cases (Families C and D).
Cases.
Mutational analysis of the SGCE gene was performed by sequence analysis in all index cases (n = 4) and in available family members of three families (n = 15) as described (figure …
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