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Autosomal dominant centronuclear myopathy

Disease definition

A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.

ORPHA:169189

Classification level: Disorder
  • Synonym(s):
    • AD-CNM
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Infancy, Childhood, Adult, Neonatal
  • ICD-10: G71.2
  • OMIM: 160150  614408
  • UMLS: C1834558
  • MeSH: -
  • GARD: 12719
  • MedDRA: -

Detailed information

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