英语词汇“ullrich congenital muscular atrophy”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	ullrich congenital muscular atrophy
释义	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.
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Ullrich congenital muscular atrophy