Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.
Yongzhi XieZhiqiang LinLei LiuXiaobo LiShunxiang HuangHuadong ZhaoBinghao WangSen ZengWanqian CaoLu LiXiying ZhuSiwei HuangHonglan YangMengli WangZhengmao HuJun-Ling WangJi-Feng GuoLu ShenJiang HongStephan ZuchnerBeisha TangRuxu ZhangPublished in: European journal of neurology (2021)
Our results provided a unique genotypic and phenotypic landscape of patients with CMT and related disorders from central south China, including a relatively high proportion of CMT2 and lower occurrence of PMP22 duplication. The broad phenotype spectra in certain genes have advanced our understanding of CMT.