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Article

Unusual findings in Leigh syndrome caused by T8993C mutation.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2009

Yiş Uluç, Seneca Sara, Dirik Eray, Kurul Semra Hiz, Ozer Erdener, Cakmakçi Handan, De Meirleir Linda

Abstract excerpt

The pathological nature of Leigh syndrome is highly variable and depends on the underlying mitochondrial or nuclear genome defect. Mitochondrial m.8993T>G and m.8993T>C mutations are responsible for both NARP (neurogenic weakness, ataxia and retinitis pigmentosa) and Leigh syndrome depending on the amount of mutant mtDNA. The clinical findings of Leigh syndrome caused by the m.8993T>C mutation are less severe...

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Identifiers

PMID: 19046652
DOI: 10.1016/j.ejpn.2008.10.009

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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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