| 朱成林,赵增趁,徐晶,张磊,傅瑞阳.IGHMBP2基因新突变致腓骨肌萎缩症2S型1例并文献复习[J].浙江中西医结合杂志,2026,36(3): |
| IGHMBP2基因新突变致腓骨肌萎缩症2S型1例并文献复习 |
| A case of Charcot-Marie-Tooth disease type 2S caused by a novel mutation of the IGHMBP2 gene and a literature review |
| 投稿时间：2025-05-30 修订日期：2026-01-17 |
| DOI： |
| 中文关键词: 肌无力 腓骨肌萎缩症 IGHMBP2基因 基因变异 |
| 英文关键词:Myasthenia CMT IGHMBP2 gene genetic variation |
| 基金项目:浙江省名老中医专家传承工作室建设项目（项目编号：GZS20170722） |
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| 中文摘要: |
| 本文对2023年于我院接受康复治疗的1例5岁男性CMT 2S型患者进行回顾性分析。患者自幼出现四肢进行性无力,17月龄不能独立行走,2岁后逐渐出现双手无力、肌肉萎缩及步态异常等症状,无明显肢体麻木疼痛等主观感觉障碍,但神经电生理检查显示感觉神经受累。基因测序发现患者IGHMBP2 基因存在c.221C>T(p.Arg71*)、c.2595_2598del(p.Lys868Profs*108)两个AR复合杂合变异,其中c.2595_2598del为全新致病变异位点。文献复习显示,既往报道CMT 2S型多伴有感觉神经障碍,而本病例感觉障碍表现存在异质性。本研究首次报道该新突变位点,丰富了IGHMBP2基因表型谱,对临床早期识别该病、提供遗传咨询及生育指导具有积极意义。 |
| 英文摘要: |
| This article presents a retrospective analysis of a 5-year-old male patient with Charcot-Marie-Tooth disease (CMT) type 2S who underwent rehabilitation treatment in our hospital in 2023.The patient had shown progressive limb weakness since childhood,was unable to walk independently at 17 months of age, and gradually developed symptoms such as bilateral hand weakness,muscle atrophy, and gait abnormalities after the age of 2. There were no obvious subjective sensory disturbances such as limb numbness or pain, although nerve electrophysiological examinations revealed involvement of sensory nerves. Genetic sequencing identified two AR compound heterozygous variants in the patient"s IGHMBP2 gene:c.221C>T(p.Arg71*)and c.2595_2598del (p.Lys868Profs*108),with |
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