Gene Symbol: MYBPC3
OMIM: 600958Chromosome location: 11p11.2
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| France | NA | NA | 34 patients/9 unrelated families | NA | Teirlinck CH et al., 2012Teirlinck CH, Senni F, Malti RE, Majoor-Krakauer D, Fellmann F, Millat G, André-Fouët X, Pernot F, Stumpf M, Boutarin J, Bouvagnet P, . A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.. BMC Med. Genet.. 2012; 13(0):105 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Italy | NA | NA | 14% | NA | Girolami F et al., 2006Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F, Fantini S, Baldini K, Torricelli F, Cecchi F, . A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.. J Cardiovasc Med (Hagerstown). 2006; 7(8):601-7 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Italy | NA | NA | 19.5% (19 patients/97 patients) | NA | Calore C et al., 2015Calore C, De Bortoli M, Romualdi C, Lorenzon A, Angelini A, Basso C, Thiene G, Iliceto S, Rampazzo A, Melacini P, . A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.. J. Med. Genet.. 2015; 0(0): |
References
Calore C, De Bortoli M, Romualdi C, Lorenzon A, Angelini A, Basso C, Thiene G, Iliceto S, Rampazzo A, Melacini P, A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.J. Med. Genet.. 2015; 0(0):
Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F, Fantini S, Baldini K, Torricelli F, Cecchi F, A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.J Cardiovasc Med (Hagerstown). 2006; 7(8):601-7
Teirlinck CH, Senni F, Malti RE, Majoor-Krakauer D, Fellmann F, Millat G, André-Fouët X, Pernot F, Stumpf M, Boutarin J, Bouvagnet P, A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.BMC Med. Genet.. 2012; 13(0):105