Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Titin, the biggest single (poly) peptide found in humans, and throughout nature so far, was long considered as a good candidate for inherited muscle diseases. However, disease-causing defects were not known until recently, when this central sarcomeric protein was associated with human skeletal tibial muscular dystrophy (TMD/LGMD2J), dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). Several mutations in different parts of titin have now been identified and more are expected. Spontaneous mouse and zebrafish mutants have also been reported. Experimental knock-outs are not viable, even in cases where just a c-terminal part of the gene was silenced, telling something of the basic importance of titin for life. In this article we review the current known structure and functions of this elementary molecule with some emphasis on the only defects so far known to cause human skeletal muscle disease, mutations in the c-terminal M-line part of titin.
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PMID:The role of titin in muscular disorders. 1457 68