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Metadata
ID DOID:0050760
Name 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.
https://rarediseases.org/rare-diseases/x-linked-myopathy-with-excessive-autophagy/
Xrefs

GARD:3892

OMIM:310440

Synonyms

XMEA [EXACT]

Parent Relationships

is_a myopathy

is_a X-linked recessive disease

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