Logo image
220th ENMC workshop: Dystroglycan and the dystroglycanopathies Naarden, The Netherlands, 27–29 May 2016
Journal article   Open access   Peer reviewed

220th ENMC workshop: Dystroglycan and the dystroglycanopathies Naarden, The Netherlands, 27–29 May 2016

Susan C Brown, Steve J Winder, Neil Bevan, Lyndsey Bevan, Sue Brown, Hans van Bokhoven, Kevin Campbell, Sebahattin Cirak, Bulmaro Cisneros, Holly Colognato, …
Neuromuscular disorders : NMD, Vol.27(4), pp.387-395
04/2017
DOI: 10.1016/j.nmd.2016.12.010
PMID: 28089719
url
https://doi.org/10.1016/j.nmd.2016.12.010View
Published (Version of record) Open Access

Abstract

•Review of clinical phenotypes associated with the dystroglycanopathies.•Discussion of current animal models and their contribution to understanding the disease process.•New insight into the glycosylation of alpha dystroglycan and the role of LARGE.•Structural information on the LARGE glycan.

Details

Logo image