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[Mitochondrial DNA T to G mutation 8993 in Leigh encephalopathy and organic aciduria].

No to hattatsu = Brain and development - 1 May 2001

Ueno M, Oka A, Maegaki Y, Toyoshima M, Fujiwaki T, Takeshita K

Abstract excerpt

We report a 10-month-old female infant with Leigh encephalopathy caused by a T to G mutation at nucleotide 8993 of mitochondrial DNA. Initial manifestations were diarrhea and pyrexia, followed by disturbance of consciousness. Blood chemistry showed lactic acidosis, and cranial T2 weighted magnetic resonance imaging demonstrated symmetric high-intensity areas in the basal ganglia, consistent with Leigh...

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Identifiers

PMID: 11391973

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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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