在两种类型1A的Charcot-Marie-Tooth疾病病例中,中间传导速度
Pedro José Tomaselli1, Julian Blake2,3, James M Polke4
1Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto, Brazil.
European journal of neurology
|February 27, 2024
概括
这项研究报告了两例罕见的Charcot-Marie-Tooth病1A型 (CMT1A) 病例,神经传导速度高于典型范围. 这些发现强调了在中等神经传导速度的患者中进行PMP22重复测试的必要性.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 临床神经科学 临床神经科学
背景情况:
- 查洛特-玛丽-牙病1A型 (CMT1A) 是最常见的遗传性神经病变.
- 经典CMT1A的特点是神经传导速度缓慢 (NCV),通常低于38 m/s.
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