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Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.

Genes - 29 Nov 2022

Pegat Antoine, Streichenberger Nathalie, Lacoste Nicolas, Hermier Marc, Menassa Rita, Coudert Laurent, Theuriet Julian, Froissart Roseline, Terrone Sophie, Bouhour Francoise, Michel-Calemard Laurence, Schaeffer Laurent, Jacquier Arnaud

Abstract excerpt

X-linked Myopathy with Excessive Autophagy (XMEA) is a rare autophagic vacuolar myopathy caused by mutations in the Vacuolar ATPase assembly factor VMA21 gene; onset usually occurs during childhood and rarely occurs during adulthood. We described a 22-year-old patient with XMEA, whose onset was declared at 11 through gait disorder. He had severe four-limb proximal weakness and amyotrophy, and his proximal muscle...

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Identifiers

PMID: 36553512
DOI: 10.3390/genes13122245
PMCID: PMC9777698

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