X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

X-linked Emery–Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of conduction tissue anomalies. The aim of this study...

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Detalles Bibliográficos
Autores principales: Viggiano, Emanuela, Madej-Pilarczyk, Agnieszka, Carboni, Nicola, Picillo, Esther, Ergoli, Manuela, del Gaudio, Stefania, Marchel, Michal, Nigro, Gerardo, Palladino, Alberto, Politano, Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895991/
https://www.ncbi.nlm.nih.gov/pubmed/31718017
http://dx.doi.org/10.3390/genes10110919

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