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Article

Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease.

BMC cardiovascular disorders - 3 Jul 2018

Razmara Ehsan, Garshasbi Masoud

Abstract excerpt

BACKGROUND: Myosin VI, encoded by MYH6, is expressed dominantly in human cardiac atria and plays consequential roles in cardiac muscle contraction and comprising the cardiac muscle thick filament. It has been reported that the mutations in the MYH6 gene associated with sinus venosus atrial septal defect (ASD type III), hypertrophic (HCM) and dilated (DCM) cardiomyopathies. METHODS: Two patients in an Iranian...

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Source

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Identifiers

PMID: 29969989
DOI: 10.1186/s12872-018-0867-4
PMCID: PMC6029398

Genes

MYH6

Provenance

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

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Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease.PMID 29969989Read ↗

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Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defectSemantic proximity Read ↗

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