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Article

A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy.

Cold Spring Harbor molecular case studies - 1 Dec 2022

Forrest Megan E, Meyer Alayne P, Laureano Figueroa Stephanie M, Antonellis Anthony

Abstract excerpt

Aminoacyl-tRNA synthetases (ARSs) are essential enzymes with a critical role in protein synthesis: charging tRNA molecules with cognate amino acids. Heterozygosity for variants in five genes (AARS1, GARS1, HARS1, WARS1, and YARS1) encoding cytoplasmic, dimeric ARSs have been associated with autosomal dominant neurological phenotypes, including axonal Charcot-Marie-Tooth disease (CMT). Missense variants in the...

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PMID: 36307205
DOI: 10.1101/mcs.a006246
PMCID: PMC9808560

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