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

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 h...

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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2014
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4047257/
https://ncbi.nlm.nih.gov/pubmed/24884847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-14-116
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