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Article

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

Neurology - 22 May 2012

Zhao Z, Hashiguchi A, Hu J, Sakiyama Y, Okamoto Y, Tokunaga S, Zhu L, Shen H, Takashima H

Abstract excerpt

OBJECTIVE: To identify a new genetic cause of distal hereditary motor neuropathy (dHMN), which is also known as a variant of Charcot-Marie-Tooth disease (CMT), in a Chinese family. METHODS: We investigated a Chinese family with dHMN clinically, electrophysiologically, and genetically. We screened for the mutations of 28 CMT or related pathogenic genes using an originally designed microarray resequencing DNA chip....

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PMID: 22573628
DOI: 10.1212/WNL.0b013e3182574f8f
PMCID: PMC3359507

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