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A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).

Human mutation - 1 Jan 2012

McLaughlin Heather M, Sakaguchi Reiko, Giblin William, Wilson Thomas E, Biesecker Leslie, Lupski James R, Talbot Kevin, Vance Jeffery M, Züchner Stephan, Lee Yi-Chung, Kennerson Marina, Hou Ya-Ming, Nicholson Garth, Antonellis Anthony

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease comprises a heterogeneous group of peripheral neuropathies characterized by muscle weakness and wasting, and impaired sensation in the extremities. Four genes encoding an aminoacyl-tRNA synthetase (ARS) have been implicated in CMT disease. ARSs are ubiquitously expressed, essential enzymes that ligate amino acids to cognate tRNA molecules. Recently, a p.Arg329His variant in the...

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PMID: 22009580
DOI: 10.1002/humu.21635
PMCID: PMC3240693

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