Article
Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy.
Lancet (London, England) - 31 Jan 2004
Murphy Ross T, Mogensen Jens, Shaw Anthony, Kubo Toru, Hughes Sian, McKenna William J
Abstract excerpt
Idiopathic dilated cardiomyopathy is a common cause of heart failure. Half of cases are believed to be hereditary, and mutations in cardiac sarcomeric contractile protein genes have been reported with autosomal dominant inheritance. We used mutation analysis suitable for identification of both dominant and recessive mutations to investigate the sarcomeric gene for cardiac troponin I (TNNI3) in 235 patients with...
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