Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

Charcot-Marie-Tooth (CMT) disease comprises a genetically and clinically heterogeneous group of peripheral nerve disorders characterized by impaired distal motor and sensory function. Mutations in three genes encoding aminoacyl-tRNA synthetases (ARSs) have been implicated in CMT disease primarily as...

Full description

Bibliographic Details
Main Authors:	McLaughlin, H, Sakaguchi, R, Liu, C, Igarashi, T, Pehlivan, D, Chu, K, Iyer, R, Cruz, P, Cherukuri, P, Hansen, N, Mullikin, J, Biesecker, L, Wilson, T, Ionasescu, V, Nicholson, G, Searby, C, Talbot, K, Vance, J, Züchner, S, Szigeti, K, Lupski, JR, Hou, Y, Green, E, Antonellis, A
Format:	Journal article
Language:	English
Published:	2010

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

Similar Items