File:Jmd-20064f1 (1).jpg
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Summary
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English: Family pedigree, imaging, and genetic results. A: Brain magnetic resonance imaging (MRI) of the mother demonstrated prominent cerebellar atrophy, while the brainstem and middle cerebellar peduncles were relatively preserved (T2-weighted axial image). B: Brain MRI of the daughter showed diffuse cerebellar cortical atrophy (T2-weighted axial image). C: The patients’ family pedigree shows that only the proband and her daughter were affected. D: An electropherogram illustrated a missense mutation (c.1268G>A, p.R423H) of the KCNC3 gene in the mother, which verified the ataxia panel sequencing result of the daughter (heterozygous peaks, arrow). |
Date | |
Source | https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.20064 |
Author | Minkyeong Kim, Seung Hwan Oh, Jae Wook Cho, Jae-Hyeok Lee |
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English: This file is licensed CC BY-NC 4.0
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current | 20:15, 20 October 2023 | 1,132 × 619 (105 KB) | Ozzie10aaaa (talk | contribs) | Uploaded a work by Minkyeong Kim, Seung Hwan Oh, Jae Wook Cho, Jae-Hyeok Lee from https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.20064 with UploadWizard |
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