| 1 | GYS1, GYS1D
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| Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts.
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| Cameron JM, Levandovskiy V, MacKay N, Utgikar R, Ackerley C, Chiasson D, Halliday W, Raiman J, Robinson BH.
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| Mol Genet Metab 98(4):378-82. Epub 2009 Jul 26.PMID: 19699667 2009
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| 2 | GYS1
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| Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
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| McCue ME, Valberg SJ, Miller MB, Wade C, DiMauro S, Akman HO, Mickelson JR.
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| Genomics 91(5):458-66. Epub 2008 Mar 20.PMID: 18358695 2008
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| 3 | GYS1
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| Variation in GYS1 interacts with exercise and gender to predict cardiovascular mortality.
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| Fredriksson J, Anevski D, Almgren P, Sjögren M, Lyssenko V, Carlson J, Isomaa B, Taskinen MR, Groop L, Orho-Melander M; Botnia Study Group.
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| PLoS One 2(3):e285.PMID: 17356695 2007
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| 4 | EPM2A, GYS1, GYS2, NHLRC1, EPM2B, GSK3A, GSK3B
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| Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.
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| Lohi H, Ianzano L, Zhao XC, Chan EM, Turnbull J, Scherer SW, Ackerley CA, Minassian BA.
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| Hum Mol Genet 14(18):2727-36. Epub 2005 Aug 22. 2005
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| 5 | GYS1, NIDDM6
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| A missense mutation of the muscle glycogen synthase gene (M416V) is associated with insulin resistance in the Japanese population.
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| Shimomura H, Sanke T, Ueda K, Hanabusa T, Sakagashira S, Nanjo K.
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| Diabetologia 40(8):947-52. 1997
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| 6 | GYS1
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| Isolation and characterization of the human muscle glycogen synthase gene.
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| Orho M, Nikula-Ijäs P, Schalin-Jäntti C, Permutt MA, Groop LC.
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| Diabetes 44(9):1099-105.PMID: 7657035 1995
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| 7 | GYS1
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| Simple tandem repeat DNA polymorphism in the human glycogen synthase gene is associated with NIDDM in Japanese subjects.
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| Kuroyama H, et al.
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| Diabetologia 37 : 536-539. 1994
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| 8 | GYS1
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| Description of a second microsatellite marker and linkage analysis of the muscle glycogen synthase locus in familial NIDDM.
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| Elbein SC, et al.
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| Diabetes 43 : 1061-1065. 1994
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| 9 | GYS1
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| Assignment of the gene encoding glycogen synthase (GYS) to human chromosome 19, band q13.3
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| Lehto M, et al.
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| Genomics 15 : 460-461. 1993
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| 10 | GYS1
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| EcoRI restriction fragment length polymorphism in human glycogen synthase gene.
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| Adjoa SA, et al.
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| Hum Genet 92 : 632. 1993
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| 11 | GYS1
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| Identification of a simple tandem repeat DNA polymorphism in the human glycogen synthase gene and linkage to five markers on chromosome 19q.
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| Vionnet N, et al.
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| Diabetes 42 : 930-932. 1993
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