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Article

A New Leu714Arg Variant in the Converter Domain of MYH7 is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy.

Frontiers in bioscience (Scholar edition) - 23 Feb 2024

Golubenko Maria V, Pavlyukova Elena N, Salakhov Ramil R, Makeeva Oksana A, Puzyrev Konstantin V, Glotov Oleg S, Puzyrev Valery P, Nazarenko Maria S

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy is the most frequent autosomal dominant disease, yet due to genetic heterogeneity, incomplete penetrance, and phenotype variability, the prognosis of the disease course in pathogenic variant carriers remains an issue. Identifying common patterns among the effects of different genetic variants is important. METHODS: We investigated the cause of familial hypertrophic...

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Topics

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Share to Cardiac Myosins
Share to Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathy, Hypertrophic, Familial

Share to MYH7 gene

Share to Mutation

Share to Mutation, Missense

Share to Myosin Heavy Chains

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Source

Identifiers

PMID: 38538344
DOI: 10.31083/j.fbs1601001

Genes

MYH7

Variants

Provenance

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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