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Article

An Investigation of the Molecular Mechanism of Double cMyBP-C Mutation in a Patient with End-Stage Hypertrophic Cardiomyopathy.

Journal of cardiovascular translational research - 1 Jun 2015

Gajendrarao Poornima, Krishnamoorthy Navaneethakrishnan, Selvaraj Senthil, Girolami Francesca, Cecchi Franco, Olivotto Iacopo, Yacoub Magdi

Abstract excerpt

Mutations in the gene coding for cardiac myosin binding protein-C (cMyBP-C), a multi-domain (C0-C10) protein, are a major causative factor for inherited hypertrophic cardiomyopathy. Patients carrying mutations in this gene have an extremely heterogeneous clinical course, with some progressing to end-stage heart failure. The cause of this variability is unknown. We here describe molecular modeling of a double...

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Source

Identifiers

PMID: 25971843
DOI: 10.1007/s12265-015-9624-6

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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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