Unlike CMT1, which results from damage to the myelin sheath insulating axons, CMT2 is caused by direct damage to nerve axons themselves. CMT2 is commonly referred to as “axonal” CMT. …

CMT2 patients show little if any slowing in their nerve conductions, and biopsies show the loss of myelinated axons but little segmental demyelination/remyelination. The clinical presentation is …

2024年6月22日 · CMT2: CMT2 represents 15% to 30% of cases and is characterized by axonal pathology, an autosomal dominant mode of inheritance, onset typically in the second or third …

CMT2 degenerates axons communicating to muscles and conveying information about sensation. CMT2 is a slow, progressive disorder. Over time, muscle weakness and numbness will extend …

什么是CMT2？ Charcot-Marie-Tooth疾病2型 （CMT2）是一种CMT型，具有破坏周围神经轴突结构和功能的遗传缺陷。所以，CMT2通常被称为“轴突CMT”。 CMT2不如 CMT1 常见，约占所 …

cmt2最常见的原因是 mfn2基因 突变，约占病例的20％。 大约90％的CMTX患者都有 GJB1基因 突变。 已经在少数具有这些和其他类型的人中鉴定了许多其他基因的突变。

2025年1月6日 · CMT2 affects the axon of peripheral nerve cells and is less common than CMT1. There are more than a dozen types of CMT2, linked to specific gene changes. In addition to …

cmt是最常见的遗传性周围神经病之一（发病率约为1/2500）。根据临床和电生理特征，cmt分为两型：cmt1型（脱髓鞘型），神经传导速度（ncv）减慢（正中神经传导速度s），cmt2型（轴 …

2021年11月19日 · Charcot-Marie-Tooth disease type 2 (CMT2) is a type of CMT whose genetic defects, or mutations, disrupt the structure and function of axons — the long projections of …

descriptions of CMT2 identified patients affected at an older than typical CMT1 patients, the mutations that cause these late onset cases have proven difficult to identify. Rather, MFN2 …