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: 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 t...

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Bibliographic Details
Main Authors: Emanuela Viggiano, Agnieszka Madej-Pilarczyk, Nicola Carboni, Esther Picillo, Manuela Ergoli, Stefania del Gaudio, Michal Marchel, Gerardo Nigro, Alberto Palladino, Luisa Politano
Format: Article
Language:English
Published: MDPI AG 2019-11-01
Series:Genes
Subjects:
emery–dreifuss muscular dystrophy (edmd1)
x-chromosome inactivation (xci)
cardiac symptoms
skewed x-chromosome inactivation
Online Access:https://www.mdpi.com/2073-4425/10/11/919

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https://www.mdpi.com/2073-4425/10/11/919

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