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Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy
Authors:Alison G Compton  Douglas E Albrecht  Jane T Seto  Sandra T Cooper  Biljana Ilkovski  Kristi J Jones  Daniel Challis  David Mowat  Barbara Ranscht  Melanie Bahlo  Stanley C Froehner  and Kathryn N North
Institution:1 Institute for Neuromuscular Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia
2 Department of Physiology and Biophysics, University of Washington, Seattle, WA 98195, USA
3 Discipline of Pediatrics and Child Health, Faculty of Medicine, University of Sydney, NSW 2006, Australia
4 Department of Pediatrics, School of Women's and Children's Health, University of New South Wales, Sydney, NSW 2052, Australia
5 Division of Obstetrics and Maternal Fetal Medicine, Royal Hospital for Women, Randwick, NSW 2031, Australia
6 Department of Medical Genetics, Sydney Children's Hospital, Sydney, NSW 2031, Australia
7 Burnham Institute for Medical Research, La Jolla, CA 92037, USA
8 Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria 3050, Australia
Abstract:
Keywords:
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