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New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
Arteche-López A, Avila-Fernandez A, Damian A, Soengas-Gonda E, de la Fuente RP, Gómez PR, Merlo JG, Burgos LH, Fernández CC, Rosales JML, Martínez JFG, Quesada-Espinosa JF, Corton M, Guerrero-Molina MP. Arteche-López A, et al. Among authors: martinez jfg. Clin Genet. 2023 Feb;103(2):236-241. doi: 10.1111/cge.14249. Epub 2022 Nov 3. Clin Genet. 2023. PMID: 36250766
Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis.
Cantero D, Hernández-Laín A, Martínez JFG, Pérez MR, Ruano Y, Lleixà C, Gallardo E, Domínguez-González C. Cantero D, et al. Among authors: martinez jfg. J Neurol Sci. 2018 Nov 15;394:63-67. doi: 10.1016/j.jns.2018.08.026. Epub 2018 Sep 5. J Neurol Sci. 2018. PMID: 30218921