换一批
换一批Clinical and pathological study of SORD-related distal motor neuropathy caused by novel compound heterozygous mutations in a Chinese patient.
第一作者：
Bin,Chen
第一单位：
Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; China National Clinical Research Center for Neurological Diseases, Beijing, China.
作者：
主题词
成年人(Adult);中国(China);女(雌)性(Female);遗传性感觉和运动神经病(Hereditary Sensory and Motor Neuropathy);人类(Humans);L-艾杜糖醇-2-脱氢酶(L-Iditol 2-Dehydrogenase);突变(Mutation);腓肠神经(Sural Nerve)
DOI
10.1016/j.clineuro.2021.107118
PMID
34995833
发布时间
2022-12-07
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