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[The application of scales and characteristics of disability in the common genotypes of Charcot-Marie-Tooth disease].

Zhonghua yi xue za zhi - 12 Jan 2021

Liu X, Zhang R X, Liu L, Xie Y Z, Lin Z Q, Zhao Q, Cao W Q, Zhu X Y, Li X B

Abstract excerpt

Objective: To analyze the correlations among different common scales for evaluating the severity of the first-visit Charcot-Marie-Tooth disease (CMT), and explore the cross-sectional characteristics of neurological dysfunction in patients with four common genotypes (CMT1A, CMT1X, CMT2A and MPZ-related CMT) at their first visits. Methods: A total of 117 genetically confirmed CMT patients (aged ≥10 years) from the...

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PMID: 33455129
DOI: 10.3760/cma.j.cn112137-20200415-01205

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