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Article

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.

Neurology - 14 Oct 2003

Petruzzella V, Di Giacinto G, Scacco S, Piemonte F, Torraco A, Carrozzo R, Vergari R, Dionisi-Vici C, Longo D, Tessa A, Papa S, Bertini E

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 14557590
DOI: 10.1212/01.wnl.0000080363.10902.e9

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Related research

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Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.PMID 14557590Read ↗

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Fatal manifestation of a de novo ND5 mutation: Insights into the pathogenetic mechanisms of mtDNA ND5 gene defects.Semantic proximity Read ↗

[Mitochondrial ND5 as the causative gene of Leight syndrome].Semantic proximity Read ↗

Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome.Semantic proximity Read ↗

Mitochondrial DNA or Genomic DNA Variant(s): Utility of Exhaustive Sequencing in Leigh Syndrome.Semantic proximity Read ↗

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.Semantic proximity Read ↗

The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype.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 ↗

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.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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