title: Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children.
abstract: 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.
mesh_terms: D002467:Cell Nucleus; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009133:Muscular Atrophy / Q000151:congenital / Q000235:genetics / Q000473:pathology; D009135:Muscular Diseases / Q000151:congenital / Q000235:genetics / Q000473:pathology*