Ullrich congenital muscular atrophy(redirected from Ullrich scleroatonic muscular dystrophy)
Ullrich congenital muscular atrophyA rare autosomal dominant proximal myopathy (OMIM:254090) of early childhood onset, characterised by joint contractures most often affecting the elbows and ankles.
Caused by defects of:
(1) COL6A1, which encodes the alpha 1 subunit;
(2) COL6A2, which encodes the alpha 2 subunit; and
(2) COL6A3, which encodes the alpha 3 subunit.
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