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Article

Progressive nephropathy associated with mitochondrial tRNA gene mutation.

Clinical nephrology - 1 Aug 2004

Dinour D, Mini S, Polak-Charcon S, Lotan D, Holtzman E J

Abstract excerpt

Mitochondrial DNA plays a crucial role in oxidative production of energy. Thus, defects in mitochondrial DNA can affect virtually all organ systems. The point mutation A --> G at position 3243 in the mitochondrial tRNAleu(UUR) gene is the cause of several distinct types of mitochondrial cytopathy and several clinical phenotypes, including encephalomyopathy with lactic acidosis and stroke-like episodes and...

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PMID: 15356973
DOI: 10.5414/cnp62149

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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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