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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.
Beijer D, Dohrn MF, Rebelo A, Danzi MC, Grosz BR, Ellis M, Kumar KR, Vucic S, Vais H, Weissenrieder JS, Lunko O, Paudel U, Simpson LC, Camarena V, Raposo J, Saporta M, Arcia Y, Xu I, Feely S, Record CJ, Blake J, Reilly MM, Scherer SS, Kennerson M, Lee YC, Foskett JK, Shy ME, Zuchner S. Beijer D, et al. Brain. 2025 Jan 7;148(1):227-237. doi: 10.1093/brain/awae206. Brain. 2025. PMID: 38938188
Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.
Henning F, Naidu K, Record CJ, Dominik N, Vandrovcova J, Lubbe F, Dercksen M; ICGNMD Consortium; Wilson LA, Van Der Westhuizen F, Reilly MM, Houlden H, Hanna MG, Carr J. Henning F, et al. Mov Disord Clin Pract. 2024 Oct;11(10):1298-1300. doi: 10.1002/mdc3.14178. Epub 2024 Aug 2. Mov Disord Clin Pract. 2024. PMID: 39092477 Free PMC article. No abstract available.