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Article

Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy.

The journal of gene medicine - 1 Apr 2017

Viggiano Emanuela, Picillo Esther, Ergoli Manuela, Cirillo Alessandra, Del Gaudio Stefania, Politano Luisa

Abstract excerpt

BACKGROUND: Becker muscular dystrophy (BMD) is an X-linked recessive disorder affecting approximately 1: 18.000 male births. Female carriers are usually asymptomatic, although 2.5-18% may present muscle or heart symptoms. In the present study, the role of the X chromosome inactivation (XCI) on the onset of symptoms in BMD carriers was analysed and compared with the pattern observed in Duchenne muscular dystrophy...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Duchenne

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Source

Identifiers

PMID: 28316128
DOI: 10.1002/jgm.2952

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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