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Congenital fiber-type disproportion myopathy

Disease definition

A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness.


Classification level: Disorder
  • Synonym(s):
    • CFTDM
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G71.2
  • OMIM: 255310  300580  617760
  • UMLS: C0546264
  • MeSH: -
  • GARD: 6161
  • MedDRA: -
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