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Article

Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.

Neuromuscular disorders : NMD - 1 May 1998

Makino M, Horai S, Goto Y, Nonaka I

Abstract excerpt

Among 80 patients with the clinical and brain imaging characteristics of Leigh's syndrome, 11 patients had a well-known mutation at nucleotide position (nt) 8993 in mitochondrial DNA. In addition, three patients had a T-to-C mutation at nt 9176 which had been described previously in only two brothers with bilateral striatal necrosis and one patient with Leigh's syndrome. In our three patients, one had the typical...

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Identifiers

PMID: 9631394
DOI: 10.1016/s0960-8966(98)00017-0

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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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Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.PMID 9631394Read ↗

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Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.Semantic proximity Read ↗

Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.Semantic proximity Read ↗

Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.Semantic proximity Read ↗

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT-ATP6 Gene.Semantic proximity Read ↗

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