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Article

Differential contributions of sarcomere and mitochondria-related multigene variants to the endophenotype of hypertrophic cardiomyopathy.

Mitochondrion - 1 Jul 2020

Chung Hyemoon, Kim Yoonjung, Cho Sun-Mi, Lee Ho-Joon, Park Chul-Hwan, Kim Jong-Youn, Lee Sang-Hak, Min Pil-Ki, Yoon Young Won, Lee Byoung Kwon, Kim Woo-Shik, Hong Bum-Kee, Kim Tae Hoon, Rim Se-Joong, Kwon Hyuck Moon, Choi Eui-Young, Lee Kyung-A

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a multigenic disease that occurs due to various genetic modifiers. We investigated phenotype-based clinical and genetic characteristics of HCM patients using comprehensive genetic tests and rare variant association analysis. METHODS: A comprehensive HCM-specific panel, consisting of 82 nuclear DNAs (nDNAs: 33 sarcomere-associated genes, 5 phenocopy genes, and 44...

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Share to Cardiac Myosins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mitochondria, Heart

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Source

Identifiers

PMID: 32380161
DOI: 10.1016/j.mito.2020.04.010

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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