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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Hauptverfasser:	Duane L Guernsey, Haiyan Jiang, Karen Bedard, Susan C Evans, Meghan Ferguson, Makoto Matsuoka, Christine Macgillivray, Mathew Nightingale, Scott Perry, Andrea L Rideout, Andrew Orr, Mark Ludman, David L Skidmore, Timothy Benstead, Mark E Samuels
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Public Library of Science (PLoS) 2010-08-01
Schriftenreihe:	PLoS Genetics
Online-Zugang:	https://doi.org/10.1371/journal.pgen.1001081
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Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.

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