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Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

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Presentation on theme: "Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)"— Presentation transcript:

1 Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations
Sanger sequencing, conservation, and summary of known ACO2 mutations (A) Electropherograms indicating the homozygous ACO2 mutation (affected family members), the heterozygous mutation (both parents and unaffected sibling), and the reference sequence (unaffected, unrelated subject). (B) Amino acid conservation within the ACO2 protein homologs across species. (C) Homozygous (top) and compound heterozygous (bottom) ACO2 mutations identified to date in patients with neurodegenerative phenotypes. Christian G. Bouwkamp et al. Neurol Genet 2018;4:e223 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology

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Figure Pedigrees of the SCA42 families identified in this study
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Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.
Figure 3 Pedigree of familial idiopathic transverse myelitis

Figure 3 Pedigree of familial idiopathic transverse myelitis
Figure 1 Box plot of the venous diameter in lesions

Figure 1 Box plot of the venous diameter in lesions
Figure 2 Needle biopsy of the left vastus lateralis

Figure 2 Needle biopsy of the left vastus lateralis
Figure 2 Spinal cord lesions

Figure 2 Spinal cord lesions
Figure Cerebral MRI and molecular and enzymatic analysis

Figure Cerebral MRI and molecular and enzymatic analysis
Figure 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.

Figure 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.
Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.

Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.
Figure 4 Mitochondrial respiration is affected in lymphoblastoid cell lines (LCLs) of ACO2 mutation carriers Mitochondrial respiration is affected in lymphoblastoid.

Figure 4 Mitochondrial respiration is affected in lymphoblastoid cell lines (LCLs) of ACO2 mutation carriers Mitochondrial respiration is affected in lymphoblastoid.
Figure Pedigree of the family

Figure Pedigree of the family
Figure 2 Luciferase assays of transiently transfected HEK 293 cells with reporter constructs containing the 766-bp wild-type KCNJ18 or c.-542 T/A mutant.

Figure 2 Luciferase assays of transiently transfected HEK 293 cells with reporter constructs containing the 766-bp wild-type KCNJ18 or c.-542 T/A mutant.
Figure 3 Molecular genetics

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Figure 2 Correlation between total IgG levels and anti-AQP4 IgG titer
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Figure 1 Dominant and recessive missense and nonsense variants in neurofilament light (NEFL)‏ Dominant and recessive missense and nonsense variants in.
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