Journal article

Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.

Alessandra Doolan, Molly Tebo, Jodie Ingles, Lan Nguyen, Tatiana Tsoutsman, Lien Lam, Christine Chiu, Jessica Chung, Robert G Weintraub, Christopher Semsarian

J Mol Cell Cardiol | Published : 2005


BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in sarcomeric proteins. Cardiac troponin I (cTnI) is a key switch molecule in the sarcomere. Mutations in cTnI have been identified in <1% of genotyped HCM families. METHODS: To study the prevalence, clinical significance and functional consequences of cTnI mutations, genetic testing was performed in 120 consecutive Australian families with HCM referred to a tertiary referral centre, and results correlated with clinical phenotype. Each cTnI mutation identified was tested in a mammalian two-hybrid system to evaluate the functional effects of these mutations on troponin complex interactions. RES..

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