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Article

Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain.

Cardiology in the young - 1 Apr 2017

Zhao Peng, Cui Hong-Li, He Ting-Ting, Wang Ji-Gang, Wang Dong, Feng Xin-Xing, Zou Yu-Bao, Wang Yi-Lu, Wang Ji-Zheng, Hui Ru-Tai, Song Lei

Abstract excerpt

The present study was performed to identify the genotype of a hypertrophic cardiomyopathy family and investigate the clinicopathogenic characteristics and prognostic features of relevant genetic abnormalities. Target sequence capture sequencing was performed to screen for pathogenic alleles in a 32-year-old female patient (proband). Sanger sequencing was carried out to verify the results. Sanger sequencing was...

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PMID: 27161882
DOI: 10.1017/S1047951116000731

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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