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.
D. Hong, P. Fang, S. Yao et al.
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