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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...

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Detalles Bibliográficos
Autores principales:	Naylor, Rosie J., Livesey, Leanda, Schumacher, John, Henke, Nicole, Massey, Claire, Brock, Kenny V., Fernandez-Fuente, Marta, Piercy, Richard J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3409190/ https://www.ncbi.nlm.nih.gov/pubmed/22860112 http://dx.doi.org/10.1371/journal.pone.0042317

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