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Hi! Does anyone know something about bethlem myopathy? What kind of disease is? I heard that is very rear.

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Hi! Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy. Fewer than 100 cases have been reported in the literature. Creatine kinase (CK) levels and histological findings are not conclusive. Mutations in one of the three subunits of collagen VI are responsible for the disease. Treatment remains purely supportive. The clinical features do not differ markedly from those of other mild forms of progressive muscular dystrophy with the exception of finger contractures which are sometimes suggestive of the diagnosis. I hope that you are satisfied with this information.
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