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MIM.600996 1q42.1-q43

Friday 4 December 2009


- Mutations in the cardiac ryanodine receptor gene (MIM.180902).

  • The ryanodine receptor on the sarcoplasmic reticulum is the major source of calcium required for cardiac muscle excitation-contraction coupling. The channel is a tetramer comprised of 4 RYR2 polypeptides and 4 FK506-binding proteins (FKBP1A; MIM.186945)


- Scoote, M.; Williams, A. J. : Myocardial calcium signalling and arrhythmia pathogenesis. Biochem. Biophys. Res. Comm. 322: 1286-1309, 2004. PubMed ID : 15336976

- Tiso, N.; Stephan, D. A.; Nava, A.; Bagattin, A.; Devaney, J. M.; Stanchi, F.; Larderet, G.; Brahmbhatt, B.; Brown, K.; Bauce, B.; Muriago, M.; Basso, C.; Thiene, G.; Danieli, G. A.; Rampazzo, A. : Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum. Molec. Genet. 10: 189-194, 2001. PubMed ID : 11159936

- Rampazzo, A.; Nava, A.; Erne, P.; Eberhard, M.; Vian, E.; Slomp, P.; Tiso, N.; Thiene, G.; Danieli, G. A. : A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum. Molec. Genet. 4: 2151-2154, 1995. PubMed ID : 8589694