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Article

Late adult-onset of X-linked myopathy with excessive autophagy.

Muscle & nerve - 1 Jul 2014

Crockett Cameron D, Ruggieri Alessandra, Gujrati Meena, Zallek Christopher M, Ramachandran Nivetha, Minassian Berge A, Moore Steven A

Abstract excerpt

INTRODUCTION: X-linked myopathy with excessive autophagy (XMEA) is characterized by autophagic vacuoles with sarcolemmal features. Mutations in VMA21 result in insufficient lysosome acidification, causing progressive proximal weakness with onset before age 20 years and loss of ambulation by middle age. METHODS: We describe a patient with onset of slowly progressive proximal weakness of the lower limbs after age...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 24488655
DOI: 10.1002/mus.24197
PMCID: PMC4589296

Genes

VMA21
LAMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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