Ullrich congenital muscular atrophy

Ullrich congenital muscular atrophy

A rare autosomal dominant proximal myopathy (OMIM:254090) of early childhood onset, characterised by joint contractures most often affecting the elbows and ankles.  

Molecular pathology
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.