Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder which is typically transmitted by an autosomal dominant pattern, although reduced penetrance and sporadic cases caused by de novo mutations, are often observed. FSHD may be caused by a contraction of a repetitive element, loca...

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Detalhes bibliográficos
Publicado no:Front Neurol
Main Authors: Cascella, Raffaella, Strafella, Claudia, Caputo, Valerio, Galota, Rosaria Maria, Errichiello, Valeria, Scutifero, Marianna, Petillo, Roberta, Marella, Gian Luca, Arcangeli, Mauro, Colantoni, Luca, Zampatti, Stefania, Ricci, Enzo, Deidda, Giancarlo, Politano, Luisa, Giardina, Emiliano
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018
Assuntos:
Neurology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6279899/
https://ncbi.nlm.nih.gov/pubmed/30546343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2018.01027
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