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Article

A new mutational mechanism for hypertrophic cardiomyopathy.

Gene - 10 Oct 2012

Pezzoli Laura, Sana Maria Elena, Ferrazzi Paolo, Iascone Maria

Abstract excerpt

We describe a male patient affected by hypertrophic cardiomyopathy (HCM) with no point mutations in the eight sarcomeric genes most commonly involved in the disease. By multiple ligation-dependent probe amplification (MLPA) we have identified a multi-exons C-terminus deletion in the cardiac myosin binding protein C (MYBPC3) gene. The rearrangement has been confirmed by long PCR and breakpoints have been defined...

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Source

Identifiers

PMID: 22820391
DOI: 10.1016/j.gene.2012.06.097

Genes

MYBPC3

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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A new mutational mechanism for hypertrophic cardiomyopathy.PMID 22820391Read ↗

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