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N.P.3 06 In vitro analysis of MFN2 mutations associated with Charcot-Marie-Tooth disease

✍ Scribed by R.H. Baloh; J. Milbrandt; A. Pestronk


Book ID
116792539
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
42 KB
Volume
16
Category
Article
ISSN
0960-8966

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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