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

ABSTRACT:

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.

Results

Investigation of the family history revealed an autosomal dominant transmission pattern. The clinical features of the family included mild weakness and wasting of the distal muscles of the lower limb and foot deformity, without clinical sensory involvement. Electrophysiologic studies revealed motor neuropathy. MRI of the lower limbs showed accentuated f

SUBMITTER: Zhao Z 

PROVIDER: S-EPMC3359507 | biostudies-literature | 2012 May

REPOSITORIES: biostudies-literature