Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.

Abstract

Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous condition with >50 genes now being identified. Thanks to new technological developments, namely, exome sequencing, the ability to identify additional rare genes in CMT has been drastically improved. Here we present data suggesting that MARS is a very rare novel cause of late-onset CMT2. This… (More)
DOI: 10.1136/jnnp-2013-305049

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Cite this paper

@article{Gonzalez2013ExomeSI, title={Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.}, author={Michael A. Gonzalez and Heather M. McLaughlin and Henry Houlden and Min Guo and Liu Yo-Tsen and Marios Hadjivassilious and Fiorella Speziani and Xiang-Lei Yang and Anthony Antonellis and Alexander M Rossor and Stephan Z{\"{u}chner}, journal={Journal of neurology, neurosurgery, and psychiatry}, year={2013}, volume={84 11}, pages={1247-9} }