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Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease

✍ Scribed by Guernsey, Duane L.; Jiang, Haiyan; Bedard, Karen; Evans, Susan C.; Ferguson, Meghan; Matsuoka, Makoto; Macgillivray, Christine; Nightingale, Mathew; Perry, Scott; Rideout, Andrea L.; Orr, Andrew; Ludman, Mark; Skidmore, David L.; Benstead, Timothy; Samuels, Mark E.; Orr, Harry T.


Book ID
119960830
Publisher
Public Library of Science
Year
2010
Tongue
English
Weight
741 KB
Volume
6
Category
Article
ISSN
1553-7390

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In a previous study, we have shown that N-myc downstream-regulated gene 1 (NDRG1), classified in databases as a tumor suppressor and heavy metal-response protein, is mutated in hereditary motor and sensory neuropathy Lom (HMSNL), a severe autosomal recessive form of Charcot-Marie-Tooth (CMT) disease