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

Genes - 11 Nov 2019

Viggiano Emanuela, Madej-Pilarczyk Agnieszka, Carboni Nicola, Picillo Esther, Ergoli Manuela, Gaudio Stefania Del, Marchel Michal, Nigro Gerardo, Palladino Alberto, Politano Luisa

Abstract excerpt

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 was to evaluate the relation between heart involvement in symptomatic EDMD1 carriers and the X-chromosome...

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Identifiers

PMID: 31718017
DOI: 10.3390/genes10110919
PMCID: PMC6895991

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