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Multiminicore myopathy

Disease definition

Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.

ORPHA:598

  • Synonym(s):
    • MmD
    • Multiminicore disease
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Antenatal, Neonatal, Infancy, Childhood
  • ICD-10: G71.2
  • OMIM: 117000  255320  602771
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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