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Article

Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy.

European journal of medical genetics - 1 Sept 2017

Petropoulou Evmorfia, Soltani Mohammadhossein, Firoozabadi Ali Dehghani, Namayandeh Seyedeh Mahdieh, Crockford Jade, Maroofian Reza, Jamshidi Yalda

Abstract excerpt

Familial dilated cardiomyopathy (DCM) is characterized by ventricular dilation and depressed myocardial performance. It is a genetically heterogeneous disorder associated with mutations in over 60 genes. We carried out whole exome sequencing in combination with cardiomyopathy-related gene-filtering on two affected family members to identify the possible causative mutation in a consanguineous Iranian family with...

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Source

Identifiers

PMID: 28642161
DOI: 10.1016/j.ejmg.2017.06.008

Genes

MYH7
TNNT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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