Shan-Shan Zhong

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

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.