Article
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
Journal of medical genetics - 1 May 2006
Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak C P, Camuzat A, Lagueny A, Vercueil L, Doummar D, Guyant-Maréchal L, Houeto J-L, Ponsot G, Thobois S, Cournelle M-A, Durr A, Durif F, Echenne B, Hannequin D, Tranchant C, Brice A
Abstract excerpt
BACKGROUND: Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. METHODS: We have screened for SGCE mutations in index cases from 76 French patients with myoclonic syndromes, including myoclonus dystonia (M-D), essential myoclonus (E-M), primary myoclonic dystonia, generalised dystonia, dystonia with tremor, and...
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