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Article

Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study.

Journal of the peripheral nervous system : JPNS - 1 Mar 2022

Nam Da Eun, Park Jin Hee, Park Cho Eun, Jung Na Young, Nam Soo Hyun, Kwon Hye Mi, Kim Hyun Su, Kim Sang Beom, Son Won Seok, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) and related diseases are a genetically and clinically heterogeneous group of peripheral neuropathies. Particularly, mutations in several aminoacyl-tRNA synthetase (ARS) genes have been reported to cause axonal CMT (CMT2) or distal hereditary motor neuropathy (dHMN). However, the common pathogenesis among CMT subtypes by different ARS gene defects is not well understood. This...

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PMID: 34813128
DOI: 10.1111/jns.12476

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