儿童Charcot-Marie-Tooth病4K型1例报道  

A Case Report of Charcot-Marie-Tooth Disease Type 4K in Children

作　　者：朱晓霞[1] 林华[1] 罗军[1] 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：[1]三峡大学附属仁和医院儿科,湖北宜昌443001

出　　处：《罕少疾病杂志》2022年第9期14-15,共2页Journal of Rare and Uncommon Diseases

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.

关 键 词：儿童 Charcot-Marie-Tooth病4K型 SURF1基因 

分 类 号：R729[医药卫生—儿科]