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Article

The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy.

PloS one - 1 Jan 2015

Jørgenrud Benedicte, Jalanko Mikko, Heliö Tiina, Jääskeläinen Pertti, Laine Mika, Hilvo Mika, Nieminen Markku S, Laakso Markku, Hyötyläinen Tuulia, Orešič Matej, Kuusisto Johanna

Abstract excerpt

AIMS: Mutations in the cardiac myosin-binding protein C gene (MYBPC3) are the most common genetic cause of hypertrophic cardiomyopathy (HCM) worldwide. The molecular mechanisms leading to HCM are poorly understood. We investigated the metabolic profiles of mutation carriers with the HCM-causing MYBPC3-Q1061X mutation with and without left ventricular hypertrophy (LVH) and non-affected relatives, and the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26267065
DOI: 10.1371/journal.pone.0134184
PMCID: PMC4534205

Genes

MYBPC3

Variants

Provenance

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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