A Recurrent loss-of-function alanyl-tRNA
✍
Heather M. McLaughlin; Reiko Sakaguchi; William Giblin; NIH Intramural Sequencin
📂
Article
📅
2011
🏛
John Wiley and Sons
🌐
English
⚖ 426 KB
👁 1 views
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 expr