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Article

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

Biochemical and biophysical research communications - 18 Sept 1997

Santorelli F M, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays A P, DiMauro S

Abstract excerpt

We report a novel G13513A mutation in the mitochondrial ND5 gene in a patient who had morphologically and biochemically abnormal muscle mitochondria and died at age 45 with a diagnosis of MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The mutation affects an evolutionarily conserved nucleotide and was heteroplasmic in muscle, leukocytes, and several autopsy tissues, including...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9299505
DOI: 10.1006/bbrc.1997.7167

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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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Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.PMID 9299505Read ↗

The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.Semantic proximity Read ↗

The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.Semantic proximity Read ↗

A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.Semantic proximity Read ↗

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?Semantic proximity Read ↗

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.Semantic proximity Read ↗

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.Semantic proximity Read ↗

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A rare heteroplasmic point mutation in the MT-ND5 gene (m.13094T>C; p.Val253Ala) found in a patient with adult onset MELAS syndrome: a case reportSemantic proximity Read ↗

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.Semantic proximity Read ↗

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.Semantic proximity Read ↗

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.Semantic proximity Read ↗

Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes.Semantic proximity Read ↗

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