Charcot-Marie-Tooth (CMT) diseases are a clinically and genetically heterogeneous group of disorders. Different variants in the neurofilament heavy chain (NEFH) gene have been described to cause the CMT2CC subtype. Here we report the first Italian patient affected by CMT2CC, harboring a novel variant in NEFH. In describing our patient, we also reviewed previously CMT2CC individuals, and suggested to consider NEFH variant if patients have an axonal sensory-motor neuropathy with a prominent proximal muscles involvement with early requirement of walking aids or wheelchair, remembering a motor neuron disorder.

中文翻译：

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意大利首例 Charcot-Marie-Tooth 2CC 的近端虚弱参与在 NEFH 中具有新的移码变体

Charcot-Marie-Tooth (CMT) 疾病是一组临床和遗传异质性疾病。神经丝重链 ( NEFH ) 基因的不同变体已被描述为导致 CMT2CC 亚型。在这里，我们报告了第一个受 CMT2CC 影响的意大利患者，该患者在 NEFH 中具有新的变异。在描述我们的患者时，我们还回顾了之前的 CMT2CC 个体，并建议考虑NEFH变异，如果患者患有轴突感觉运动神经病变，伴有明显的近端肌肉受累，早期需要助行器或轮椅，记得运动神经元疾病。