Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy

Neurology. 2015 Apr 21;84(16):1714-6. doi: 10.1212/WNL.0000000000001499. Epub 2015 Mar 27.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / physiopathology
  • Humans
  • Lysosomal Storage Diseases / genetics*
  • Lysosomal Storage Diseases / physiopathology
  • Male
  • Muscular Diseases / genetics*
  • Muscular Diseases / physiopathology
  • Mutation / genetics
  • Siblings
  • Vacuolar Proton-Translocating ATPases / genetics*
  • Young Adult

Substances

  • VMA21 protein, human
  • Vacuolar Proton-Translocating ATPases

Supplementary concepts

  • Myopathy, X-Linked, with Excessive Autophagy
  • Vacuolar myopathy