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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,...
Shranjeno v:
| izdano v: | Korean Circ J |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
The Korean Society of Cardiology
2017
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5378035/ https://ncbi.nlm.nih.gov/pubmed/28382084 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4070/kcj.2016.0213 |
| Oznake: |
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