178 Chapter 7 REFERENCES 1. Haghighi, K. et al. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc. Natl. Acad. Sci. U. S. A. 103, (2006). 2. Cheung, C. C. et al. Phospholamban cardiomyopathy: a Canadian perspective on a unique population. Neth. Heart J. 27, 208–213 (2019). 3. DeWitt, M. M., MacLeod, H. M., Soliven, B. & McNally, E. M. Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. J. Am. Coll. Cardiol. 48, (2006). 4. Jiang, X. et al. The phenotypic characteristic observed by cardiac magnetic resonance in a PLN-R14del family. Sci. Rep. 10, 1–6 (2020). 5. López-Ayala, J. M. et al. Phospholamban p.arg14del mutation in a Spanish family with arrhythmogenic cardiomyopathy: evidence for a European founder mutation. Rev. Esp. Cardiol. 68, (2015). 6. Posch, M. G. et al. Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. Heart Rhythm 6, (2009). 7. van der Zwaag, P. A. et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur. J. Heart Fail. 14, 1199–1207 (2012). 8. Zanotti, S. et al. Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Gene. Cells 12, (2023). 9. Hof, I. E. et al. Prevalence and cardiac phenotype of patients with a phospholamban mutation. Neth. Heart J. 27, 64–69 (2019). 10. van der Meer, P., van Rooij, E. & Doevendans, P. A. [Cardiomyopathy due to a mutation in the phospholamban gene: a high-impact genetic abnormality]. Ned. Tijdschr. Geneeskd. 167, (2023). 11. van der Zwaag, P. A. et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur. J. Heart Fail. 14, 1199–1207 (2012). 12. Young, H. S., Ceholski, D. K. & Trieber, C. A. Deception in simplicity: hereditary phospholamban mutations in dilated cardiomyopathy. Biochem. Cell Biol. 93, (2015). 13. Haghighi, K. et al. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc. Natl. Acad. Sci. U. S. A. 103, (2006). 14. van der Zwaag, P. A. et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur. J. Heart Fail. 14, 1199–1207 (2012). 15. van Rijsingen, I. A. W. et al. Outcome in phospholamban R14del carriers: results of a large multicentre cohort study. Circ. Cardiovasc. Genet. 7, 455–465 (2014). 16. Bhonsale, A. et al. Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/ cardiomyopathy-associated mutation carriers. Eur. Heart J. 36, 847–855 (2015). 17. van Rijsingen, I. A. W. et al. Outcome in phospholamban R14del carriers: results of a large multicentre cohort study. Circ. Cardiovasc. Genet. 7, 455–465 (2014). 18. Haghighi, K., Bidwell, P. & Kranias, E. G. Phospholamban interactome in cardiac contractility and survival: A new vision of an old friend. J. Mol. Cell. Cardiol. 77, 160–167 (2014). 19. van Rijsingen, I. A. W. et al. Outcome in phospholamban R14del carriers: results of a large multicentre cohort study. Circ. Cardiovasc. Genet. 7, 455–465 (2014). 20. Peterson, D. F. et al. Aetiology and incidence of sudden cardiac arrest and death in young competitive athletes in the USA: a 4-year prospective study. Br. J. Sports Med. 55, 1196–1203 (2021). 21. Harmon, K. G. Incidence and Causes of Sudden Cardiac Death in Athletes. Clin. Sports Med. 41, 369–388 (2022). 22. van Lint, F. H. M. et al. Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy. Neth. Heart J. 31, 291–299 (2023).
RkJQdWJsaXNoZXIy MTk4NDMw