Journal
MOVEMENT DISORDERS
Volume 23, Issue 4, Pages 588-592Publisher
WILEY-LISS
DOI: 10.1002/mds.21785
Keywords
myoclonus dystonia; epsilon-sarcoglycan; SGCE; phenotype
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Funding
- NINDS NIH HHS [NS26656, NS37409] Funding Source: Medline
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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) 2008 Movement Disorder Society.
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