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Fig. 2

Fig. 2. From: ANO10 mutations cause ataxia and coenzyme Q10 deficiency.

Schematic representation of ANO10. In green: putative intra-cytoplasmic region, in blue: putative transmembrane domains, in orange: putative extracellular domains. Text in red: previously reported mutations; in bold italic: mutations found in our patients

Andrea Balreira, et al. J Neurol. 2014;261(11):2192-2198.

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2.
Fig. 1

Fig. 1. From: ANO10 mutations cause ataxia and coenzyme Q10 deficiency.

Detection of heterozygous ANO10 variants in genomic DNA of patient 1 (a). cDNA analysis of patient 1 detected the c.1843G>A, p.Asp615Asn mutation in hemizygous form, confirming compound heterozygosity (b), Compound heterozygous mutations were detected in patient 2 (c), Q-RT-PCR showed significantly decreased ANO10 mRNA levels in patient 2’s fibroblast, compared with controls (d). Values are expressed as mean ± SD of patient and controls (N = 3)

Andrea Balreira, et al. J Neurol. 2014;261(11):2192-2198.

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