英语词汇“limb girdle muscular dystrophy type 2g”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	limb girdle muscular dystrophy type 2g
释义	limb girdle muscular dystrophy type 2G limb girdle muscular dystrophy type 2G A rare autosomal recessive degenerative myopathy (OMIM:601954) characterised by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy and absence of telethonin (titin cap); cardiac muscle is involved in some patients. Molecular pathology Defects of TCAP, which encodes a protein that regulates muscle assembly, cause limb-girdle muscular dystrophy type 2G.
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limb girdle muscular dystrophy type 2G