| 1 | GYS1, GYS1D |
| Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts. | |
| Cameron JM, Levandovskiy V, MacKay N, Utgikar R, Ackerley C, Chiasson D, Halliday W, Raiman J, Robinson BH. | |
| Mol Genet Metab 98(4):378-82. Epub 2009 Jul 26.PMID: 19699667 2009 | |