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    Screening for SH3TC2 variants in Charcot–Marie–Tooth disease in a cohort of Chinese patients

    Mutations in the SH3TC2 gene cause Charcot–Marie–Tooth disease type 4C (CMT4C), characterized by inherited demyelinating peripheral neuropathy. CMT4C is a common form of CMT4/autosomal recessive (AR) CMT1. This s...

    Bo Sun, Zheng-Qing He, Yan-Ran Li, Jiong-Ming Bai, Hao-Ran Wang… in Acta Neurologica Belgica (2022)