Article

Titin : an analysis of genetic variation and cardiac phenotype

2015-01-01

Abstract excerpt

Non ischaemic dilated cardiomyopathy (DCM) is an important cause of heart failure leading to chronic morbidity and death and as such is a major health burden. DCM is familial in up to 50% of cases but is genetically heterogeneous, hindering both genotype-phenotype studies and the application of genetic information for stratified patient management. TTN truncating variants (TTNtv) cause severe and familial DCM, but...

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Literature Corpus work: 842f8f54-862d-5654-9f29-09a0afc85449
DOI: 10.25560/26990

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