X-linked myopathy with excessive autophagy(English)

• 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
• VMA
• Congenital disorders, Musculoskeletal system, Disability
• https://doi.org….1002/mus.24197