Muscle Ultrasound in Bethlem Myopathy

Abstract excerpt

Sir, Bethlem myopathy is an autosomal dominant disease caused by mutations in the genes coding for collagen type VI, characterized clinically by early onset, delayed development of contractures and altogether slow progression [[ 2 ], [ 3 ]]. The diagnosis of Bethlem myopathy is based on the family history and on clinical findings of mild hypotonia and weakness early in childhood followed by the later development...

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