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Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.
ORPHA:610Classification level: Disorder
To date, fewer than 100 cases have been reported in the literature, thus illustrating its rarity.
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.
Mutations in one of the three subunits of collagen VI are responsible for the disease. Molecular studies are however hampered by the size and expression pattern of the genes.
Creatine kinase (CK) levels and histological findings are not conclusive.
Management and treatment
Treatment remains purely supportive.
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