Key result
A single TNNI3 p.Arg145Trp mutation caused diverse phenotypic expression in a Korean family, ranging from restrictive cardiomyopathy to hypertrophic cardiomyopathy to a near-normal phenotype.
Population
A Korean family including a 57-year-old female proband with hypertrophic cardiomyopathy and 6 relatives with…
Design
Case_series
Authors
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May inform cascade screening in TNNI3 families; leaves open the role of modifiers in phenotypic diversity.
Case Report (n=7)
A single TNNI3 mutation (p.Arg145Trp) can cause diverse phenotypic expressions of cardiomyopathies, including restrictive and hypertrophic forms, within the same family.
Hwang et al. (2016) conducted a case report in Cardiomyopathy (n=7). TNNI3 p.Arg145Trp mutation was evaluated on Phenotypic expression of cardiomyopathies. A single TNNI3 p.Arg145Trp mutation caused diverse phenotypic expression in a Korean family, ranging from restrictive cardiomyopathy to hypertrophic cardiomyopathy to a near-normal phenotype.
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