mutation in the gene encoding ubiquitin ligase lrsam1 in patients with charcot-marie-tooth disease突变基因编码的泛素连接酶lrsam1患者疾病腓骨肌萎缩.pdfVIP

Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease 1 1 1 1 2 Duane L. Guernsey , Haiyan Jiang , Karen Bedard , Susan C. Evans , Meghan Ferguson , Makoto 1 1,3 1 1 2 Matsuoka , Christine Macgillivray , Mathew Nightingale , Scott Perry , Andrea L. Rideout , Andrew 3 2,4 2,4 5 1,6 Orr , Mark Ludman , David L. Skidmore , Timothy Benstead , Mark E. Samuels * 1 Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada, 2 Maritime Medical Genetics Service, Izaak Walton Killam Health Centre, Halifax, Nova Scotia, Canada, 3 Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada, 4 Department of Pediatrics, Division of Medical Genetics, Izaak Walton Killam Health Centre and Dalhousie University, Halifax, Nova Scotia, Canada, 5 Department of Medicine, Division of Neurology, Dalhousie ˆ ´ ´ ´ University, Halifax, Nova Scotia, Canada, 6 Centre de Recherche de l’Hopital Ste-Justine, Universite de Montreal, Montreal, Quebec, Canada Abstract 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 mapping w