Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).

doi:10.1093/jnen/nlaf134

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Article

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).

Journal of neuropathology and experimental neurology - 1 Apr 2026

Merlet Angèle N, Lacène Emmanuelle, Nelson Isabelle, Brochier Guy, Labasse Clémence, Chanut Anais, Madelaine Angeline, Beuvin Maud, Bonne Gisèle, Féasson Léonard, Minot Marie-Christine, Noury Jean-Baptiste, Fradin Mélanie, Savarese Marco, Fernández-Eulate Gorka, Behin Anthony, Stojkovic Tanya, Hentschel Andreas, Marcorelles Pascale, Roos Andreas, Evangelista Teresinha

Abstract excerpt

X-linked myopathy with excessive autophagy (XMEA) is a slowly progressive disease affecting male patients, caused by hemizygous mutations in the VMA21 gene. We studied nine patients from six unrelated French families clinically suspected of having XMEA. Clinical charts were reviewed, and muscle biopsies underwent histological, immunohistochemical, and electron microscopy analysis. Sanger sequencing and next...

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Identifiers

PMID: 41307411
DOI: 10.1093/jnen/nlaf134
PMCID: PMC13017771

Genes

VMA21

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

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