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Title: Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations
Authors: Raymond, Deborah
Saunders-Pullman, Rachel
Aguiar, Patricia de Carvalho [UNIFESP]
Schule, Birgitt
Kock, Norman
Friedman, Jennifer
Harris, Juliette
Ford, Blair
Frucht, Steven
Heiman, Gary A.
Jennings, Danna
Doherty, Dana
Brin, Mitchell F.
Brin, Deborah de Leon
Multhaupt-Buell, Trisha
Lang, Anthony E.
Kurlan, Roger
Klein, Christine
Ozelius, Laurie
Bressman, Susan
Beth Israel Deaconess Med Ctr
Albert Einstein Coll Med
Universidade Federal de São Paulo (UNIFESP)
Inst Israelita Ensino & Pesquisa Albert Einstein
Parkinsons Inst
Univ Lubeck
Rady Childrens Hosp
Massachusetts Gen Hosp
Columbia Univ
Rutgers State Univ
Inst Neurodegenerat Disorders
Mt Sinai Sch Med
Univ Calif Irvine & Allergan
Univ Toronto
Univ Rochester
Keywords: myoclonus dystonia
Issue Date: 15-Mar-2008
Publisher: Wiley-Blackwell
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.
ISSN: 0885-3185
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