X-linked myopathy with excessive autophagy

Term ID

DOID:0050760

Synonyms

• XMEA

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/

References

• GARD:3892
• OMIM:310440

Ontology

Human Disease   ( DOID:0050760 )