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Article

Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy.

Muscle & nerve - 1 Oct 2015

Mercier Sandra, Magot Armelle, Caillon Florence, Isidor Bertrand, David Albert, Ferrer Xavier, Vital Anne, Coquet Michelle, Penttilä Sini, Udd Bjarne, Mussini Jean-Marie, Pereon Yann

Abstract excerpt

INTRODUCTION: X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive myopathy due to recently reported mutations in the VMA21 gene. METHODS: Four men from 2 separate families were studied. The clinical presentation, genetic data, muscle biopsy, and muscle MRI were analyzed. RESULTS: A known VMA21 mutation, c.163+4A>G, and a new mutation, c.163+3A>G, respectively, were found in the 2 families....

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Source

Identifiers

PMID: 25809233
DOI: 10.1002/mus.24664

Genes

VMA21

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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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