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. 2020 Sep 15;6(5):e511.
doi: 10.1212/NXG.0000000000000511. eCollection 2020 Oct.

Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene

Roberta Brusa  1 , Eleonora Mauri  1 , Laura Dell'Arti  1 , Francesca Magri  1 , Dario Ronchi  1 , Valeria Minorini  1 , Claudia Mainetti  1 , Delia Gagliardi  1 , Irene Faravelli  1 , Megi Meneri  1 , Nereo Bresolin  1 , Francesco Viola  1 , Stefania Corti  1 , Giacomo Pietro Comi  1
Affiliations

Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene

Roberta Brusa et al. Neurol Genet. .
No abstract available

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Figures

Figure
Figure. Neuro-ophthalmologic evaluations
Fundus color image showing bilateral optic disc pallor and excavation, with main involvement of the temporal sectors (A). Humphrey automatic visual field analysis 30-2 revealing a superotemporal defect in the OD and centrocecal scotoma in the OS (B). No retinal abnormalities were detected at IR and autofluorescence (C, OS upper row, OD lower row), whereas OCT showed a diffused macular ganglion cell layer thinning and a RNFL atrophy of the temporal sectors (D, OS upper row, OD lower row). IR = infrared retinoscopy; OCT = optical coherence tomography; OD = oculus dexter; OS = oculus sinister; RNFL = retinal nerve fiber layer.
See this image and copyright information in PMC

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