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Article

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

Journal of neurology, neurosurgery, and psychiatry - 1 Nov 2013

Gonzalez Michael, McLaughlin Heather, Houlden Henry, Guo Min, Yo-Tsen Liu, Hadjivassilious Marios, Speziani Fiorella, Yang Xiang-Lei, Antonellis Anthony, Reilly Mary M, Züchner Stephan

Abstract excerpt

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 is supported by strong functional and evolutionary...

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Identifiers

PMID: 23729695
DOI: 10.1136/jnnp-2013-305049
PMCID: PMC3796032

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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