vacuolar ATPase assembly factor VMA21
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From NCBI Gene:
- Myopathy, X-linked, with excessive autophagy
Myopathy, X-linked, with excessive autophagy (MEAX): A muscle disorder characterized by childhood early onset of a slowly progressive proximal limb muscle weakness (especially in legs) and elevation of serum creatine kinase, without evidence of cardiac, respiratory or central nervous system involvement. Histopathological analysis reveals diseased muscle fibers that are not necrotic, but show abnormal autophagic vacuolation as a manifestation of excessive autophagic activity in skeletal muscle cells. [MIM:310440]