Allele copy number and underlying pathology are associated with subclinical severity in equine type 1 polysaccharide storage myopathy (PSSM1).

Allele copy number and underlying pathology are associated with subclinical severity in equine type 1 polysaccharide storage myopathy (PSSM1).

Equine type 1 polysaccharide storage myopathy (PSSM1), a common glycogenosis associated with an R309H founder mutation in the glycogen synthase 1 gene (GYS1), shares pathological features with several human myopathies. In common with related human disorders, the pathogenesis remains unclear in parti...

Full description

Bibliographic Details
Main Authors: Rosie J Naylor, Leanda Livesey, John Schumacher, Nicole Henke, Claire Massey, Kenny V Brock, Marta Fernandez-Fuente, Richard J Piercy
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3409190?pdf=render

Internet

http://europepmc.org/articles/PMC3409190?pdf=render

Similar Items