一个病例报告的肌缩型2A2与中枢神经系统的参与,作为最初的呈现
1Department of Rehabilitation, Children's Hospital of Nanjing Medical University, Guangzhou Road, Nanjing, Jiangsu, 211103, China.
BMC pediatrics
|January 5, 2024
概括
查洛特-玛丽-牙病2A2型 (CMT2A2) 通常会影响周围神经. 这一案例突出了CMT2A2的罕见表现,儿童最初涉及中枢神经系统.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 查洛-玛丽-病 (CMT) 涵盖了遗传多样化的外围神经病变.
- 由MFN2突变引起的CMT2A2是最常见的轴突形式.
- 中枢神经系统 (CNS) 的参与在CMT2A2中是罕见的,与其他一些CMT类型不同.
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