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

Charcot-Marie-Tooth disease (CMT) represents a family of related sensorimotor neuropathies. We studied a large family from a rural eastern Canadian community, with multiple individuals suffering from a condition clinically most similar to autosomal recessive axonal CMT, or AR-CMT2. Homozygosity mapp...

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Main Authors: 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.
פורמט: Artigo
שפה:Inglês
יצא לאור: Public Library of Science 2010
נושאים:
Research Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC2928813/
https://ncbi.nlm.nih.gov/pubmed/20865121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1001081
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