Article
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures.
Brain : a journal of neurology - 1 Apr 1999
Jöbsis G J, Boers J M, Barth P G, de Visser M
Abstract excerpt
Bethlem myopathy is an early-onset benign autosomal dominant myopathy with contractures caused by mutations in collagen type VI genes. It has been reported that onset occurs in early childhood. We investigated the natural course of Bethlem myopathy in five previously published kindreds and two novel pedigrees, with particular attention to the mode of onset in 23 children and the progression of weakness in 36...
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