Related Experiment Video

Updated: Jun 16, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Clinical Variability Including Non-Dilated Left Ventricular and Dilated Cardiomyopathy in a Pedigree With an

Carmela Fusco1, Sandra Mastroianno2, Silvia Morlino1

  • 1Inborn Errors of Morphogenesis Research Unit and Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.

Clinical Genetics
|June 15, 2026
PubMed
Summary

A microdeletion in the CTNNA3 gene causes variable cardiomyopathies, including non-dilated left ventricle cardiomyopathy and dilated cardiomyopathy. This finding implicates CTNNA3 in hereditary heart conditions.

Keywords:
CTNNA3dilated cardiomyopathylong‐read sequencingnon‐dilated left ventricle cardiomyopathy

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