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Typical nemaline myopathy

Disease definition

Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.

ORPHA:171436

  • Synonym(s): -
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: G71.2
  • OMIM: 161800  256030  609285  610687  615731  616165
  • UMLS: -
  • MeSH: -
  • GARD: 12822
  • MedDRA: -

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