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

BACKGROUND: Myoclonus‐Dystonia syndrome (M‐D) is an autosomal‐dominant movement disorder related to SGCE gene pathogenic variants. Although there can be observed variability in clinical findings, here we describe intrafamilial variability in a Turkish family with a novel nonsense SGCE pathogenic var...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mov Disord Clin Pract
Prif Awduron: Gultekin, Murat, Prakash, Neha, Ganos, Christos, Mirza, Meral, Bayramov, Ruslan, Bhatia, Kailash P., Mencacci, Niccolò E.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley & Sons, Inc. 2019
Pynciau:
Case Series
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6660223/
https://ncbi.nlm.nih.gov/pubmed/31392249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12805
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