Version: 8.0.0
Date: Tue Jan 28 2025
X-linked myopathy with excessive autophagy
DOID:0050760
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

X-linked myopathy with excessive autophagy

Definition
A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28.
Synonyms
  • XMEA
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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