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

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 decl...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777698/
https://www.ncbi.nlm.nih.gov/pubmed/36553512
http://dx.doi.org/10.3390/genes13122245

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