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X-linked centronuclear myopathy

Disease definition

X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

ORPHA:596

  • Synonym(s):
    • X-linked myotubular myopathy
    • XLCNM
    • XLMTM
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: G71.2
  • OMIM: 310400
  • UMLS: C0410203
  • MeSH: C538647
  • GARD: 11925
  • MedDRA: -

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