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Article

The molecular pathology of pathogenic mitochondrial tRNA variants.

FEBS letters - 1 Apr 2021

Richter Uwe, McFarland Robert, Taylor Robert W, Pickett Sarah J

Abstract excerpt

Mitochondrial diseases are clinically and genetically heterogeneous disorders, caused by pathogenic variants in either the nuclear or mitochondrial genome. This heterogeneity is particularly striking for disease caused by variants in mitochondrial DNA-encoded tRNA (mt-tRNA) genes, posing challenges for both the treatment of patients and understanding the molecular pathology. In this review, we consider disease...

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Identifiers

PMID: 33513266
DOI: 10.1002/1873-3468.14049
PMCID: PMC8600956

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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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