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Article

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

Annals of neurology - 1 Dec 1999

Pulkes T, Eunson L, Patterson V, Siddiqui A, Wood N W, Nelson I P, Morgan-Hughes J A, Hanna M G

Abstract excerpt

We report on 4 male patients with clinical, radiological, and muscle biopsy findings typical of the mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) phenotype. Skeletal muscle mitochondrial DNA (mtDNA) analysis showed that all patients harbored a heteroplasmic G13513A mutation in the ND5 subunit gene. One of these cases (Patient 1) presented with symptoms characteristic of...

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Identifiers

PMID: 10589546
DOI: 10.1002/1531-8249(199912)46:6<916::aid-ana16>3.0.co;2-r

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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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The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.PMID 10589546Read ↗

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

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

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.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 ↗

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

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.Semantic proximity Read ↗

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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 ↗

The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.Semantic proximity Read ↗

The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.Semantic proximity Read ↗

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