Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children

Brain. 1985 Dec;108 ( Pt 4):941-64. doi: 10.1093/brain/108.4.941.


Eight unrelated children with centronuclear (myotubular) myopathy are described, ranging in age at the time of diagnosis from 5 days to 12 years. Six had an intrauterine onset and 5 were severely asphyxiated at birth. All had facial involvement and 6 had ophthalmoplegia. Detailed study of the parents in 7 of the families suggested an autosomal recessive inheritance or sporadic occurrence in 2 and X-linked inheritance in 5. Classification in this very variable disorder should be based on severity and mode of presentation together with the genetic pattern, allowing three subgroups to be defined: a severe neonatal X-linked recessive type, a less severe infantile or juvenile autosomal recessive type and a milder autosomal dominant type. For genetic counselling, available relatives should be examined for mild degrees of clinical involvement and morphological abnormalities on needle muscle biopsy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Nucleus
  • Child
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Muscular Atrophy / congenital
  • Muscular Atrophy / genetics
  • Muscular Atrophy / pathology
  • Muscular Diseases / congenital
  • Muscular Diseases / genetics
  • Muscular Diseases / pathology*