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Mov Disord. 2008 Mar 15;23(4):588-92. doi: 10.1002/mds.21785.

Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.

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  • 1The Alan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA.

Abstract

Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. Penetrance is influenced by parental sex, but other sex effects have not been established. In 42 affected individuals from 11 families with identified mutations, we found that sex was highly associated with age at onset regardless of mutation type; the median age onset for girls was 5 years versus 8 years for boys (P < 0.0097). We found no association between mutation type and phenotype.

(c) 2007 Movement Disorder Society.

PMID:
18175340
[PubMed - indexed for MEDLINE]
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