Autosomal dominant centronuclear myopathy

What is Autosomal dominant centronuclear myopathy?

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.

Other condition names

  • AD-CNM

Inheritance type

Autosomal dominant

Age of Onset

  • Adolescent
  • Adult
  • Childhood
  • Infancy
  • Neonatal
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