Orphanet: X linked centronuclear myopathy
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X-linked centronuclear myopathy

Disease definition

A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.

ORPHA:596

Classification level: Disorder
  • 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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