Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.K1081K
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MYH7

NM_000257.4:p.K1081K

Associated Papers

Tiny genome with big impact: mitochondrial DNA in cardiovascular health.

Yang Y et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.

Kulsirichawaroj P et al.

Pediatric Research, 2025

40494860 (PubMed )
Supplement: 41390_2025_4160_MOESM1_ESM.pdf

Mitochondrial Mutation Leads to Cardiomyocyte Hypertrophy by Disruption of Mitochondria-Associated ER Membrane.

Yu M et al.

Cell Proliferation, 2025

To prevent sudden death in m.3243A>G carriers, comprehensive neurologic, cardiac, and pulmological examinations are required.

Mehri S et al.

Cardiology in the Young, 2024

Bilateral deafness, diabetes, and different types of cardiomyopathy in family members with m.3243A > g mutation: a case report.

Seiler F et al.

European Heart Journal. Case Reports, 2023

Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report.

Lee SH et al.

European Heart Journal. Case Reports, 2023

Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.

Chakrabarty S et al.

Journal of Neurology, 2021

The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: endorsed by the World Heart Federation.

Arbustini E et al.

Journal of the American College of Cardiology, 2013

The MOGE(S) Classification for a Phenotype-Genotype Nomenclature of Cardiomyopathy: Endorsed by the World Heart Federation.

Arbustini E et al.

Global Heart, 2013

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