Linked Life Data

18175340

Source:http://linkedlifedata.com/resource/pubmed/id/18175340

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pubmed-article:18175340pubmed:abstractTextMyoclonus-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.lld:pubmed
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pubmed-article:18175340pubmed:articleTitlePhenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.lld:pubmed
pubmed-article:18175340pubmed:affiliationThe Alan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA.lld:pubmed
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