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Cardiomyopathies are a diverse group of cardiac disorders with distinct phenotypes, depending on the proteins and pathways affected. A substantial proportion of cardiomyopathies are inherited and those will be the focus of this review article. With the wide application of high-throughput sequencing in the practice of clinical genetics, the roles of novel genes in cardiomyopathies are recognised. Here, we focus on a subgroup of cardiomyopathy genes [TTN, FHL1, CSRP3, FLNC and PLN, coding for Titin, Four and a Half LIM domain 1, Muscle LIM Protein, Filamin C and Phospholamban, respectively], which, despite their diverse biological functions, all have important signalling functions in the heart, suggesting that disturbances in signalling networks can contribute to cardiomyopathies.

Original publication

DOI

10.1007/s10974-017-9487-3

Type

Journal article

Journal

J Muscle Res Cell Motil

Publication Date

08/11/2017

Keywords

Cardiomyopathies, Genetic pathogenic variant, Heart, Mouse models, Mutation, Signalling, Titin, Variant of unknown significance