Abstract: Bethlem myopathy is a well defined clinical entity among collagen VI disorders, featured by proximal muscle weakness and contractures of the fingers, wrists and ankles. It is a slowly progressive, relatively mild disease, invariably associated to date to heterozygous dominant mutations in the three collagen VI genes. We report on two unrelated patients with sporadic Bethlem myopathy in which we demonstrated the presence of two mutations in trans in the COL6A2 gene supporting an autosomal recessive inheritance.
Publication Year: 2009
Publication Date: 2009-07-31
Language: en
Type: article
Indexed In: ['crossref']
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