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Variants in MME are associated with autosomal-recessive distal Variants in MME are associated with autosomal-recessive distal hereditary motor neuropathy hereditary motor neuropathy

D. Hong P. Fang S. Yao Juan-Juan Chen Xiao-Lei Zhang Shu-Yun Chen Jing-Fen Zhang Dan-Dan Tan Li Wang Xin-Sheng Han Ling Xin Yan Wang Meige Liu L. Cong Shan-Shan Zhong H. Ouyang Xuguang Gao Jun Zhang
· 0 citations · 24 references

TL;DR

Variants in the MME gene were associated with not only a Charcot-Marie-Tooth neuropathy phenotype but also with an autosomal recessive dHMN phenotype, suggesting loss of function may play a role in the pathogenesis of dHMN.

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