1C型夏科-马里-图思病：c.334G>a（p.Gly112Ser）Litaf/简单突变的临床和电生理表现
Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.
作者信息
Jerath Nivedita U, Shy Michael E
机构信息
Department of Neurology, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, Iowa, 52242, USA.
出版信息
Muscle Nerve. 2017 Dec;56(6):1092-1095. doi: 10.1002/mus.25600. Epub 2017 Apr 29.
INTRODUCTION
Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare, dominantly inherited neuropathy caused by mutations in the lipopolysaccharide-induced tumor necrosis factor (LITAF) or small integral membrane protein of the lysosome/late endosome (SIMPLE) gene.
METHODS
We present a case series comprised of 10 patients in whom CMT1C is caused by a Gly112Ser substitution in the encoded protein. We focus on clinical presentation, electrodiagnostic analyses, and our findings in the context of previously described cases.
RESULTS
The Gly112Ser mutation causing CMT1C is a mild form of CMT, as patients walked on time, had less weakness than those with Charcot-Marie-Tooth disease type 1A (CMT1A), had a CMT neuropathy score (CMTNS) indicative of mild disease, and had faster ulnar and median motor nerve conduction velocities compared to those with CMT1A.
DISCUSSION
The G112S mutation in LITAF seems to be clinically indistinguishable from a mild presentation of CMT1A. Muscle Nerve 56: 1092-1095, 2017.
引言
1C型腓骨肌萎缩症（CMT1C）是一种罕见的常染色体显性遗传性神经病，由脂多糖诱导的肿瘤坏死因子（LITAF）或溶酶体/晚期内体小整合膜蛋白（SIMPLE）基因突变引起。
方法
我们报告了一个病例系列，包括10例由编码蛋白中的Gly112Ser替代导致CMT1C的患者。我们重点关注临床表现、电诊断分析以及在先前描述病例背景下我们的发现。
结果
导致CMT1C的Gly112Ser突变是CMT的一种轻度形式，因为患者按时行走，与1A型腓骨肌萎缩症（CMT1A）患者相比肌无力较轻，CMT神经病评分（CMTNS）表明病情较轻，并且与CMT1A患者相比尺神经和正中神经运动神经传导速度更快。
讨论
LITAF中的G112S突变在临床上似乎与CMT1A的轻度表现无法区分。《肌肉与神经》56: 1092 - 1095, 2017年。
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