212th ENMC International Workshop:: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29–31 May 2015

• Published in: Neuromuscular disorders : NMD Vol. 26; no. 3; pp. 252 - 259
• Main Authors: Saunier, M., Bönnemann, C.G., Durbeej, M., Allamand, V., Allamand, Valérie, Bonaldo, Paolo, Bönnemann, Carsten, Brown, Susan, Burkin, Dean, Campbell, Kevin P., Durbeej-Hjalt, Madeleine, Girgenrath, Mahasweta, Nevo, Yoram, Ruegg, Markus, Saunier, Margot, Toda, Tatsushi, Willmann, Raffaella
• Format: Journal Article Conference Proceeding
• Language: English
• Published: England Elsevier B.V 01-03-2016
• Subjects: Animals; Clinical Medicine; Collagen Type VI - genetics; Disease Models, Animal; Humans; Klinisk medicin; Laminin - genetics; Medical and Health Sciences; Medicin och hälsovetenskap; Mice; Mice, Transgenic; Muscular Dystrophies - congenital; Muscular Dystrophies - genetics; Muscular Dystrophy, Animal - genetics; Muscular Dystrophy, Animal - pathology; Netherlands; Neurologi; Neurology; Walker-Warburg Syndrome - genetics; Walker-Warburg Syndrome - pathology
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2016.02.002

•Alpha-dystroglycanopathies, caused by an abnormal glycosylation of α-DG.•LAMA2-related muscular dystrophies, due to a deficiency of laminin-211.•COL6-related muscular dystrophies, due to a deficiency or dysfunction of collagen type VI.•Additional sessions reviewed SOPs and the translational link to the clinic, respectively.