Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy

Neurology®, 06/08/2012

An AARS mutation caused dHMN in a Chinese family. Alanyl–tRNA synthetase (AARS) mutations result in not only a Charcot–Marie–Tooth disease (CMT) phenotype but also a dHMN phenotype.

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