Deletion in TNNI3 gene is associated with restrictive cardiomyopathy.

Abstract excerpt

In dilated and hypertrophic cardiomyopathies, over ten disease-causing genes have been identified in each entity. In contrast, mutations in only desmin and cardiac troponin T and I (TNNI3) have been shown to cause restrictive cardiomyopathy (RCM). We applied a candidate gene approach and identified a novel one nucleotide deletion, resulting in frame shift and predicted formation of a premature stop codon,...

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