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Autosomal recessive centronuclear myopathy

Disease definition

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

ORPHA:169186

  • Synonym(s):
    • AR-CNM
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G71.2
  • OMIM: 255200  615959
  • UMLS: C0410204
  • MeSH: -
  • GARD: 12718
  • MedDRA: -

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