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Article

Next-generation sequencing identifies a novel heterozygous I229T mutation on LMNA associated with familial cardiac conduction disease.

Medicine - 21 Aug 2020

Gao Yuan, Han Zhonglin, Wu Xiang, Lan Rongfang, Zhang Xinlin, Shen Wenzhi, Liu Yu, Liu Xuehua, Lan Xi, Xu Biao, Xu Wei

Abstract excerpt

LMNA gene encodes Lamin A and C (Lamin A/C), which are intermediate filament protein implicating in DNA replication and transcription. Mutations in LMNA are validated to cause cardiac conduction disease (CCD) and cardiomyopathy.In a Chinese family, we identified 5 members harboring the identical heterozygous LMNA (c.686T>C, I229T) disease-causing mutation, which was not found in the 535 healthy controls. In...

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Share to Cardiac Conduction System Disease
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32846814
DOI: 10.1097/MD.0000000000021797
PMCID: PMC7447464

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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