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

AuthorsIulia Munteanu, Nivetha Ramachandran, Alessandra Ruggieri, Tomonari Awaya, Ichizo Nishino, Berge A Minassian
JournalNeurology (Neurology) Vol. 84 Issue 16 Pg. 1714-6 (Apr 21 2015) ISSN: 1526-632X [Electronic] United States
PMID25817839 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • VMA21 protein, human
  • Vacuolar Proton-Translocating ATPases
Topics
  • Adolescent
  • Adult
  • Genetic Diseases, X-Linked (genetics, physiopathology)
  • Humans
  • Lysosomal Storage Diseases (genetics, physiopathology)
  • Male
  • Muscular Diseases (genetics, physiopathology)
  • Mutation (genetics)
  • Siblings
  • Vacuolar Proton-Translocating ATPases (genetics)
  • Young Adult

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