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Article

Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.

Human mutation - 1 Feb 2020

Janin Alexandre, Chanavat Valérie, Rollat-Farnier Pierre-Antoine, Bardel Claire, Nguyen Karine, Chevalier Philippe, Eicher Jean-Christophe, Faivre Laurence, Piard Juliette, Albert Emma, Nony Severine, Millat Gilles

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, historically believed to affect 1 of 500 people. MYBPC3 pathogenic variations are the most frequent cause of familial HCM and more than 90% of them introduce a premature termination codon. The current study aims to determine the prevalence of deep intronic MYBPC3 pathogenic variations that could lead to splice mutations. To improve...

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PMID: 31730716
DOI: 10.1002/humu.23944

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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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Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.PMID 31730716Read ↗

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