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Article

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.

BMC neurology - 28 May 2014

La Morgia Chiara, Caporali Leonardo, Gandini Francesca, Olivieri Anna, Toni Francesco, Nassetti Stefania, Brunetto Daniela, Stipa Carlotta, Scaduto Cristina, Parmeggiani Antonia, Tonon Caterina, Lodi Raffaele, Torroni Antonio, Carelli Valerio

Abstract excerpt

BACKGROUND: An increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have been associated with variably overlapping phenotypes of Leber's hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke-like episodes (MELAS) and Leigh syndrome (LS). We here describe the first case in which the m.4171C>A/MT-ND1 mutation, previously reported only in association with...

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Identifiers

PMID: 24884847
DOI: 10.1186/1471-2377-14-116
PMCID: PMC4047257

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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