CONGENITAL CENTRONUCLEAR (MYOTUBULAR) MYOPATHY
- 1 January 1985
- journal article
- Published by Oxford University Press (OUP) in Brain
- Vol. 108 (4) , 941-964
- https://doi.org/10.1093/brain/108.4.941
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.Keywords
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