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Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis

We describe a gain of function mutation in the skeletal muscle glycogen synthase gene that is responsible for a novel myopathy, and is highly prevalent in multiple breeds of horses because it arose before the founding of many modern breeds. Polysaccharide Storage Myopathy (PSSM) is a novel glycogeno...

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Autors principals: McCue, Molly E, Valberg, Stephanie J, Miller, Michael B, Wade, Claire, DiMauro, Salvatore, Akman, Hasan O, Mickelson, James R
Format: Artigo
Idioma:Inglês
Publicat: 2008
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2430182/
https://ncbi.nlm.nih.gov/pubmed/18358695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ygeno.2008.01.011
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