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|Title:||Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations|
Aguiar, Patricia de Carvalho [UNIFESP]
Heiman, Gary A.
Brin, Mitchell F.
Brin, Deborah de Leon
Lang, Anthony E.
Beth Israel Deaconess Med Ctr
Albert Einstein Coll Med
Universidade Federal de São Paulo (UNIFESP)
Inst Israelita Ensino & Pesquisa Albert Einstein
Rady Childrens Hosp
Massachusetts Gen Hosp
Rutgers State Univ
Inst Neurodegenerat Disorders
Mt Sinai Sch Med
Univ Calif Irvine & Allergan
|Citation:||Movement Disorders. Hoboken: Wiley-liss, v. 23, n. 4, p. 588-592, 2008.|
|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) 2008 Movement Disorder Society.|
|Appears in Collections:||Em verificação - Geral|
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