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X-linked myopathy with excessive autophagy

Disease definition

X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.

ORPHA:25980

  • Synonym(s):
    • XMEA
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood, Infancy, Adult, Neonatal, Adolescent
  • ICD-10: G71.8
  • OMIM: 310440
  • UMLS: C1839615  C2931230
  • MeSH: -
  • GARD: 3892
  • MedDRA: -
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