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儿童Charcot-Marie-Tooth病4K型1例报道

A Case Report of Charcot-Marie-Tooth Disease Type 4K in Children
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摘要 Charcot-Marie-Tooth病4K型(CMT4K)是一种周围感觉神经性疾病,SURF1基因与CMT4K报道较为少见,本文对我院收治的1例SURF1基因2个杂合突变所致CMT4K型进行报道。 Charcot-Marie-Tooth disease type 4K(CMT4K)is a peripheral sensory neurological disease.SURF1 gene and CMT4K reports are relatively rare.This article reports on a case of CMT4K caused by two heterozygous mutations in the SURF1 gene in our hospital.
作者 朱晓霞 林华 罗军 ZHU Xiao-xia;LIN Hua;LUO Jun(Department of Pediatrics,Renhe Hospital Affiliated to Three Gorges University,Yichang 443001,Hubei Province,China)
机构地区 三峡大学附属仁和医院儿科
出处 《罕少疾病杂志》 2022年第9期14-15,共2页 Journal of Rare and Uncommon Diseases
关键词 儿童 Charcot-Marie-Tooth病4K型 SURF1基因 Children Charcot-Marie-Tooth 4K SURF1 Gene
分类号 R729 [医药卫生—儿科]
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罕少疾病杂志
2022年 第9期

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