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Article

A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient.

Journal of neuromuscular diseases - 1 Mar 2025

Chen Lin, Fang Ming-Juan, Xu Dabing, Shi Yong-Guang, Han Yong-Zhu, Yu Xu-En, Xu Yin

Abstract excerpt

X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive hereditary disorder, characterized by childhood onset weakness of predominantly limb and trunk skeletal muscles due to progressive loss of muscle tissue. Cardiovascular system is clinically spared generally. Here, we report the clinical characteristics, muscle biopsy and genetic findings of one adult-onset individual suffering from XMEA,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39973400
DOI: 10.1177/22143602241305510
PMCID: PMC13142836

Genes

VMA21
LAMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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