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Article

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.

American journal of human genetics - 8 Jun 2012

Ghezzi Daniele, Baruffini Enrico, Haack Tobias B, Invernizzi Federica, Melchionda Laura, Dallabona Cristina, Strom Tim M, Parini Rossella, Burlina Alberto B, Meitinger Thomas, Prokisch Holger, Ferrero Ileana, Zeviani Massimo

Abstract excerpt

Dysfunction of mitochondrial respiration is an increasingly recognized cause of isolated hypertrophic cardiomyopathy. To gain insight into the genetic origin of this condition, we used next-generation exome sequencing to identify mutations in MTO1, which encodes mitochondrial translation optimization 1. Two affected siblings carried a maternal c.1858dup (p.Arg620Lysfs(∗)8) frameshift and a paternal c.1282G>A...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22608499
DOI: 10.1016/j.ajhg.2012.04.011
PMCID: PMC3370278

Genes

MTO1

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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