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Article

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.

PLoS genetics - 1 May 2020

Manivannan Sathiya N, Darouich Sihem, Masmoudi Aida, Gordon David, Zender Gloria, Han Zhe, Fitzgerald-Butt Sara, White Peter, McBride Kim L, Kharrat Maher, Garg Vidu

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is characterized by thickening of the ventricular muscle without dilation and is often associated with dominant pathogenic variants in cardiac sarcomeric protein genes. Here, we report a family with two infants diagnosed with infantile-onset HCM and mitral valve dysplasia that led to death before one year of age. Using exome sequencing, we discovered that one of the affected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32453731
DOI: 10.1371/journal.pgen.1008639
PMCID: PMC7274480

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.PMID 32453731Read ↗

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