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Article

Early onset atrial lesions in a patient with a novel LMNA frameshift mutation.

Human molecular genetics - 16 Nov 2021

Lin Yongping, Liu Hailei, Cui Chang, Lin Zhiqiao, Zhang Yike, Zhu Yue, Ju Weizhu, Chen Minglong

Abstract excerpt

Genetic mutations in the lamin A/C gene (LMNA) have been linked to cardiomyopathy. Different mutational sites exhibit different clinical manifestations and prognoses. Herein, we identified a novel LMNA frameshift mutation, p.P485Tfs*67, from a patient with early-onset atrial disease. To verify the pathogenicity of this variation, a transgenic zebrafish model was constructed, which demonstrated that adult...

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PMID: 34240207
DOI: 10.1093/hmg/ddab186

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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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