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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 brot...

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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 2 Sept 2026. Prepared record publication-9631394-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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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 ↗

Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.Semantic proximity Read ↗

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Unusual findings in Leigh syndrome caused by T8993C mutation.Semantic proximity Read ↗

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