Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation

Genetic diagnosis of cardiomyopathies is challenging, due to the marked genetic and allelic heterogeneity and the lack of knowledge of the mutations that lead to clinical phenotypes. Here, we present the case of a large family, in which a single TNNI3 mutation caused variable phenotypic expression,...

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Detalles Bibliográficos
Autores principales: Hwang, Ji-won, Jang, Mi-Ae, Jang, Shin Yi, Seo, Soo Hyun, Seong, Moon-Woo, Park, Sung Sup, Ki, Chang-Seok, Kim, Duk-Kyung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Cardiology 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378035/
https://www.ncbi.nlm.nih.gov/pubmed/28382084
http://dx.doi.org/10.4070/kcj.2016.0213

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378035/
https://www.ncbi.nlm.nih.gov/pubmed/28382084
http://dx.doi.org/10.4070/kcj.2016.0213

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