A Novel SGCE Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus-Dystonia

Gultekin, M; Prakash, N; Ganos, C; Mirza, M; Bayramov, R; Bhatia, KP; Mencacci, NE

Gultekin, M (reprint author), Erciyes Univ, Fac Med, Dept Neurol, Talas Blv, TR-38030 Melikgazi Kayseri, Turkey.

MOVEMENT DISORDERS CLINICAL PRACTICE, 2019; 6 (6): 479

Abstract

Background Myoclonus-Dystonia syndrome (M-D) is an autosomal-dominant movement disorder related to SGCE gene pathogenic variants. Although there can b......

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