We found a p.Ala406Val (c.1217C > T) mutation in MORC2 in three individuals, from two families. All three individuals were evaluated and clinical electrophysiology was completed. The neuropathy began in childhood to early adulthood, with distal weakness progressing to proximal weakness. Vinblastine (for Hodgkin lymphoma) acutely worsened the weakness in one patient. This finding confirms that that the p.Ala406Val mutation in MORC2 causes severe neuropathy. In addition, we report the first case of vinblastine neurotoxicity in Charcot-Marie-Tooth disease type 2Z.

中文翻译：

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复发性 MORC2 突变导致 Charcot-Marie-Tooth 病 2Z 型

我们在来自两个家庭的三个人的MORC2中发现了 p.Ala406Val (c.1217C > T) 突变。所有三个人都进行了评估，并完成了临床电生理学。神经病变始于儿童期至成年早期，远端无力发展为近端无力。长春碱（用于霍奇金淋巴瘤）急性加重了一名患者的虚弱。这一发现证实了 MORC2 中的 p.Ala406Val 突变会导致严重的神经病变。此外，我们报告了 Charcot-Marie-Tooth 病 2Z 型中的第一例长春碱神经毒性病例。