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Article

Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.

Clinical genetics - 1 Dec 2017

Janin A, N'Guyen K, Habib G, Dauphin C, Chanavat V, Bouvagnet P, Eschalier R, Streichenberger N, Chevalier P, Millat G

Abstract excerpt

Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure with high morbidity and mortality. More than 40 genes have been reported to cause DCM. To provide new insights into the pathophysiology of dilated cardiomyopathy, a next-generation sequencing (NGS) workflow based on a panel of 48 cardiomyopathies-causing genes was used to analyze a cohort of 222 DCM patients. Truncating variants were...

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Source

Identifiers

PMID: 28436997
DOI: 10.1111/cge.13043

Genes

FLNC
BAG3
TTN

Provenance

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