The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain)

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Published in:	International journal of cardiology Vol. 168; no. 4; pp. 4555 - 4556
Main Authors:	Reguero, Julián R, Gómez, Juan, Martín, María, Flórez, Juan P, Morís, César, Iglesias, Sara, Alonso, Belén, Alvarez, Victoria, Coto, Eliecer
Format:	Journal Article
Language:	English
Published:	Shannon Elsevier Ireland Ltd 09-10-2013 Elsevier
Subjects:	Adult Aged Biological and medical sciences Cardiology. Vascular system Cardiomyopathy, Hypertrophic - genetics Cardiovascular Carrier Proteins - genetics Female Heart Humans Hypertrophic cardiomyopathy Male Medical sciences Middle Aged MYBPC3 Myocarditis. Cardiomyopathies Penetrance Phenotype Point Mutation Sarcomeric gene mutation Spain Young Adult Europe Spain MYBPC3 Hypertrophic cardiomyopathy Phenotype Sarcomeric gene mutation Cardiovascular disease Myocardial disease Gene Low Heart disease Genetics Region North Mutation Cardiology
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Author	Coto, Eliecer Gómez, Juan Morís, César Reguero, Julián R Alonso, Belén Martín, María Flórez, Juan P Alvarez, Victoria Iglesias, Sara
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Cites_doi	10.1016/j.jacc.2009.02.075 10.1038/ncpcardio1110 10.1161/01.CIR.0000066323.15244.54 10.1161/CIRCULATIONAHA.110.954446 10.1373/49.8.1279 10.1186/1471-2350-11-67 10.1016/S0300-8932(09)70020-X 10.1016/j.ijcard.2006.08.049 10.1016/j.jmoldx.2012.04.001 10.1161/CIRCULATIONAHA.110.978924 10.1161/hc0402.102990 10.1007/s00109-002-0323-9
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Keywords	MYBPC3 Hypertrophic cardiomyopathy Phenotype Sarcomeric gene mutation Cardiovascular disease Myocardial disease Gene Low Heart disease Genetics Region North Mutation Cardiology
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References	García-Castro, Reguero, Batalla (bb0040) 2003; 49 García-Castro, Coto, Reguero (bb0020) 2009; 62 García-Castro, Reguero, Morís (bb0045) 2007; 121 Rodríguez-García, Monserrat, Ortiz (bb0055) 2010; 11 Niimura, Patton, McKenna (bb0060) 2002; 105 Keren, Syrris, McKenna (bb0005) 2008; 5 Landstrom, Ackerman (bb0025) 2010; 122 Coto, Reguero, Palacín (bb0035) 2012; 14 Bos, Towbin, Ackerman (bb0010) 2009; 54 Jaaskelainen, Kuusisto, Miettinen (bb0065) 2002; 80 Richard, Charron, Carrier (bb0015) 2003; 107 Ho (bb0030) 2010; 122 Landstrom (10.1016/j.ijcard.2013.06.085_bb0025) 2010; 122 Coto (10.1016/j.ijcard.2013.06.085_bb0035) 2012; 14 Bos (10.1016/j.ijcard.2013.06.085_bb0010) 2009; 54 Richard (10.1016/j.ijcard.2013.06.085_bb0015) 2003; 107 García-Castro (10.1016/j.ijcard.2013.06.085_bb0040) 2003; 49 Jaaskelainen (10.1016/j.ijcard.2013.06.085_bb0065) 2002; 80 Ho (10.1016/j.ijcard.2013.06.085_bb0030) 2010; 122 García-Castro (10.1016/j.ijcard.2013.06.085_bb0045) 2007; 121 Rodríguez-García (10.1016/j.ijcard.2013.06.085_bb0055) 2010; 11 Keren (10.1016/j.ijcard.2013.06.085_bb0005) 2008; 5 García-Castro (10.1016/j.ijcard.2013.06.085_bb0020) 2009; 62 Niimura (10.1016/j.ijcard.2013.06.085_bb0060) 2002; 105
References_xml	– volume: 107 start-page: 2227 year: 2003 end-page: 2232 ident: bb0015 article-title: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy publication-title: Circulation contributor: fullname: Carrier – volume: 11 start-page: 67 year: 2010 ident: bb0055 article-title: Screening mutations in myosin binding protein C3 gene in a cohort of patients with hypertrophic cardiomyopathy publication-title: BMC Med Genet contributor: fullname: Ortiz – volume: 62 start-page: 48 year: 2009 end-page: 56 ident: bb0020 article-title: Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy publication-title: Rev Esp Cardiol contributor: fullname: Reguero – volume: 122 start-page: 2441 year: 2010 end-page: 2450 ident: bb0025 article-title: Cardiomyopathy mutation type is not clinically useful in predicting prognosis in hypertrophic publication-title: Circulation contributor: fullname: Ackerman – volume: 54 start-page: 201 year: 2009 end-page: 211 ident: bb0010 article-title: Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy publication-title: J Am Coll Cardiol contributor: fullname: Ackerman – volume: 105 start-page: 446 year: 2002 end-page: 451 ident: bb0060 article-title: Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly publication-title: Circulation contributor: fullname: McKenna – volume: 14 start-page: 518 year: 2012 end-page: 524 ident: bb0035 article-title: Resequencing the whole MYH7 gene (including the intronic, promoter, and 3′ UTR sequences) in hypertrophic cardiomyopathy publication-title: J Mol Diagn contributor: fullname: Palacín – volume: 80 start-page: 412 year: 2002 end-page: 422 ident: bb0065 article-title: Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland publication-title: J Mol Med contributor: fullname: Miettinen – volume: 5 start-page: 158 year: 2008 end-page: 168 ident: bb0005 article-title: Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression publication-title: Nat Clin Pract Cardiovasc Med contributor: fullname: McKenna – volume: 49 start-page: 1279 year: 2003 end-page: 1285 ident: bb0040 article-title: Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients publication-title: Clin Chem contributor: fullname: Batalla – volume: 121 start-page: 115 year: 2007 end-page: 116 ident: bb0045 article-title: Prevalence and spectrum of mutations in the sarcomeric troponin T and I genes in a cohort of Spanish cardiac hypertrophy patients publication-title: Int J Cardiol contributor: fullname: Morís – volume: 122 start-page: 2430 year: 2010 end-page: 2440 ident: bb0030 article-title: Cardiomyopathy genetics and clinical destiny: improving care in hypertrophic publication-title: Circulation contributor: fullname: Ho – volume: 54 start-page: 201 year: 2009 ident: 10.1016/j.ijcard.2013.06.085_bb0010 article-title: Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy publication-title: J Am Coll Cardiol doi: 10.1016/j.jacc.2009.02.075 contributor: fullname: Bos – volume: 5 start-page: 158 year: 2008 ident: 10.1016/j.ijcard.2013.06.085_bb0005 article-title: Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression publication-title: Nat Clin Pract Cardiovasc Med doi: 10.1038/ncpcardio1110 contributor: fullname: Keren – volume: 107 start-page: 2227 year: 2003 ident: 10.1016/j.ijcard.2013.06.085_bb0015 article-title: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy publication-title: Circulation doi: 10.1161/01.CIR.0000066323.15244.54 contributor: fullname: Richard – volume: 122 start-page: 2441 year: 2010 ident: 10.1016/j.ijcard.2013.06.085_bb0025 article-title: Cardiomyopathy mutation type is not clinically useful in predicting prognosis in hypertrophic publication-title: Circulation doi: 10.1161/CIRCULATIONAHA.110.954446 contributor: fullname: Landstrom – volume: 49 start-page: 1279 year: 2003 ident: 10.1016/j.ijcard.2013.06.085_bb0040 article-title: Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients publication-title: Clin Chem doi: 10.1373/49.8.1279 contributor: fullname: García-Castro – volume: 11 start-page: 67 year: 2010 ident: 10.1016/j.ijcard.2013.06.085_bb0055 article-title: Screening mutations in myosin binding protein C3 gene in a cohort of patients with hypertrophic cardiomyopathy publication-title: BMC Med Genet doi: 10.1186/1471-2350-11-67 contributor: fullname: Rodríguez-García – volume: 62 start-page: 48 year: 2009 ident: 10.1016/j.ijcard.2013.06.085_bb0020 article-title: Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy publication-title: Rev Esp Cardiol doi: 10.1016/S0300-8932(09)70020-X contributor: fullname: García-Castro – volume: 121 start-page: 115 year: 2007 ident: 10.1016/j.ijcard.2013.06.085_bb0045 article-title: Prevalence and spectrum of mutations in the sarcomeric troponin T and I genes in a cohort of Spanish cardiac hypertrophy patients publication-title: Int J Cardiol doi: 10.1016/j.ijcard.2006.08.049 contributor: fullname: García-Castro – volume: 14 start-page: 518 year: 2012 ident: 10.1016/j.ijcard.2013.06.085_bb0035 article-title: Resequencing the whole MYH7 gene (including the intronic, promoter, and 3′ UTR sequences) in hypertrophic cardiomyopathy publication-title: J Mol Diagn doi: 10.1016/j.jmoldx.2012.04.001 contributor: fullname: Coto – volume: 122 start-page: 2430 year: 2010 ident: 10.1016/j.ijcard.2013.06.085_bb0030 article-title: Cardiomyopathy genetics and clinical destiny: improving care in hypertrophic publication-title: Circulation doi: 10.1161/CIRCULATIONAHA.110.978924 contributor: fullname: Ho – volume: 105 start-page: 446 year: 2002 ident: 10.1016/j.ijcard.2013.06.085_bb0060 article-title: Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly publication-title: Circulation doi: 10.1161/hc0402.102990 contributor: fullname: Niimura – volume: 80 start-page: 412 year: 2002 ident: 10.1016/j.ijcard.2013.06.085_bb0065 article-title: Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland publication-title: J Mol Med doi: 10.1007/s00109-002-0323-9 contributor: fullname: Jaaskelainen
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SubjectTerms	Adult Aged Biological and medical sciences Cardiology. Vascular system Cardiomyopathy, Hypertrophic - genetics Cardiovascular Carrier Proteins - genetics Female Heart Humans Hypertrophic cardiomyopathy Male Medical sciences Middle Aged MYBPC3 Myocarditis. Cardiomyopathies Penetrance Phenotype Point Mutation Sarcomeric gene mutation Spain Young Adult
Title	The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain)
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