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Congenital myopathy with excess of thin filaments

Disease definition

A rare, genetic, congenital myopathy disorder characterized by variable degrees of muscular weakness, frequently associated with severe nemaline myopathy-like disease (including neonatal hypotonia, lack of spontaneous movements, feeding and swallowing difficulties, frequent respiratory infections, respiratory insufficiency, early death), and histopathologic findings of large, densely packed, subsarcolemmal accumulations of thin, actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy.

ORPHA:98904

Classification level: Disorder
  • Synonym(s):
    • Actin myopathy
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: G71.2
  • OMIM: 161800
  • UMLS: C1834336  C3711389
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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