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Article

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

PloS one - 1 Jan 2012

Naylor Rosie J, Livesey Leanda, Schumacher John, Henke Nicole, Massey Claire, Brock Kenny V, Fernandez-Fuente Marta, Piercy Richard J

Abstract excerpt

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 particular, the marked phenotypic variability between affected animals. Given that affected animals accumulate glycogen...

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Identifiers

PMID: 22860112
DOI: 10.1371/journal.pone.0042317
PMCID: PMC3409190

Genes

GYS1

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