Article
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
Movement disorders : official journal of the Movement Disorder Society - 15 Mar 2008
Raymond Deborah, Saunders-Pullman Rachel, de Carvalho Aguiar Patricia, Schule Birgitt, Kock Norman, Friedman Jennifer, Harris Juliette, Ford Blair, Frucht Steven, Heiman Gary A, Jennings Danna, Doheny Dana, Brin Mitchell F, de Leon Brin Deborah, Multhaupt-Buell Trisha, Lang Anthony E, Kurlan Roger, Klein Christine, Ozelius Laurie, Bressman Susan
Abstract excerpt
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 foun...
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