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.
No takes yet. Share an insight, caveat, or question.
Heckmatt et al. (1985) studied this question.