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. 2021 Nov 3;7(6):e630.
doi: 10.1212/NXG.0000000000000630. eCollection 2021 Dec.

Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants

Benoit Rucheton  1 , Claire Ewenczyk  1 , Pauline Gaignard  1 , Jean-Madeleine de Sainte Agathe  1 , Anne-Laure Fauret  1 , Virginie Saillour  1 , Sarah Leonard-Louis  1 , Valerie Touitou  1 , Fanny Mochel  1
Affiliations

Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants

Benoit Rucheton et al. Neurol Genet. .
No abstract available

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Figures

Figure
Figure. Pathogenic SCO2 Variants and Key Findings in Our SCO2-Deficient Patient
(A) Pathogenic SCO2 variants and related phenotypes. Underlined: previously reported variants; red box: variants of the presented case. (B) High-definition optical coherence tomography of the right (top) and left (bottom) eye, demonstrating bilateral hyper reflectivity of the retro-foveal area (plain arrow), located just below the ellipsoid line, with heterogeneity of the photoreceptor line (dashed arrow). (C) Blue native polyacrylamide gel electrophoresis (BN-PAGE) analysis of mitochondrial enriched fibroblasts of the SCO2-deficient patient and two controls using antibodies against respiratory chain complex subunits (complex III: UQCRC2; complex IV: MTCO1 and MTCO2).
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