DISEASES

Disease-gene associations mined from literature

Human genes for X-linked myopathy with excessive autophagy

X-linked myopathy with excessive autophagy [DOID:0050760]

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:  X-linked myopathy with excessive autophagy,  DOID:0050760,  Xlinked myopathy with excessive autophagy,  X-linked myopathy with excessive autophagies,  XMEA