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Article

Disease-related versus polymorphic mutations in human mitochondrial tRNAs. Where is the difference?

EMBO reports - 1 Jun 2001

Florentz C, Sissler M

Abstract excerpt

A number of point mutations in human mitochondrial (mt) tRNA genes are correlated with a variety of neuromuscular and other severe disorders including encephalopathies, myopathies, cardiopathies and diabetes. The complexity of the genotype/phenotype relationships, the diversity of possible molecular impacts of the different mutations at the tRNA structure/function levels, and the exponential discovery of new...

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

Share to Polymorphism, Genetic

Share to RNA, Mitochondrial

Share to RNA, Transfer

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Identifiers

PMID: 11415979
DOI: 10.1093/embo-reports/kve111
PMCID: PMC1083905

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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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