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Article

Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies.

Mitochondrion - 1 Mar 2012

Arredondo Juan J, Gallardo M Esther, García-Pavía Pablo, Domingo Verónica, Bretón Begoña, García-Silva M Teresa, Sedano M Jesús, Martín Miguel A, Arenas Joaquín, Cervera Margarita, Garesse Rafael, Bornstein Belén

Abstract excerpt

The aim of this study was to identify the genetic defect in two patients having cardiac dysfunction accompanied by neurological symptoms, and in one case MRI evidence of cortical and cerebellar atrophy with hyperintensities in the basal ganglia. Muscle biopsies from each patient revealed single and combined mitochondrial respiratory chain deficiency. The complete mtDNA sequencing of both patients revealed two...

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Identifiers

PMID: 21986556
DOI: 10.1016/j.mito.2011.09.010

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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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