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Bethlem myopathyA rare autosomal dominant proximal myopathy (OMIM:158810) of early childhood onset characterised by joint contractures, most often affecting the elbows and ankles.
Caused by defects of:
▪ COL6A1, which encodes the alpha 1 subunit;
▪ COL6A2, which encodes the alpha 2 subunit; and
▪ COL6A3, which encodes the alpha 3 subunit.
A rare, autosomal dominant form of limb-girdle muscular dystrophy that becomes clinically obvious in early childhood. It is usually slowly progressive, gradually resulting in weakness that may limit the ability to walk independently. Muscle contractures, e.g., of the hands, ankles, and elbows, are characteristic.