| 1 | CMD1MM, MYBPC3
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| Genetic, clinical, molecular, and pathogenic aspects of the South Asian-specific polymorphic MYBPC3Δ25bp variant
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| Arif M, Nabavizadeh P, Song T, Desai D, Singh R, Bazrafshan S, Kumar M, Wang Y, Gilbert RJ, Dhandapany PS, Becker RC, Kranias EG, Sadayappan S.
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| Biophys Rev. Aug;12(4):1065-1084. doi: 10.1007/s12551-020-00725-1. Epub 2020 Jul 12. 2020
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| 2 | CMD1MM, MYBPC3
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| MYBPC3 truncation mutations enhance actomyosin contractile mechanics in human hypertrophic cardiomyopathy
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| O'Leary TS, Snyder J, Sadayappan S, Day SM, Previs MJ.
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| J Mol Cell Cardiol. Feb;127:165-173. doi: 10.1016/j.yjmcc.2018.12.003. Epub 2018 Dec 11. 2019
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| 3 | CMD1MM, MYBPC3
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| Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.
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| van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, van Melle JP, Teske AJ, Asselbergs FW, Backx APCM, du Marchie Sarvaas GJ, Dalinghaus M, Breur JMPJ, Linschoten MPM, Verlooij LA, Kardys I, Dooijes D, Lekanne Deprez RH, IJpma AS, van den Berg MP, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, Majoor-Krakauer D.
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| J Am Coll Cardiol. Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019. 2018
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| 4 | CMD1MM, MYBPC3
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| A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.
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| Calore C, De Bortoli M, Romualdi C, Lorenzon A, Angelini A, Basso C, Thiene G, Iliceto S, Rampazzo A, Melacini P.
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| J Med Genet 52(5):338-47. doi: 10.1136/jmedgenet-2014-102923. 2015
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| 5 | CMD1MM, MYBPC3
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| Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype
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| Probst S, Oechslin E, Schuler P, Greutmann M, Boyé P, Knirsch W, Berger F, Thierfelder L, Jenni R, Klaassen S.
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| Circ Cardiovasc Genet. Aug 1;4(4):367-74. doi: 10.1161/CIRCGENETICS.110.959270. Epub 2011 May 6. 2011
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| 6 | CMD1MM, MYBPC3
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| A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy.
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| Ortiz MF, Rodríguez-García MI, Hermida-Prieto M, Fernández X, Veira E, Barriales-Villa R, Castro-Beiras A, Monserrat L.
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| Rev Esp Cardiol 62(5):572-5. English, Spanish. 2009
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| 7 | CMD1MM, MYBPC3
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| Mutations in the genes for sarcomeric proteins in Japanese patients with onset sporadic hypertrophic cardiomyopathy after age 40 years.
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| Anan R, Niimura H, Takenaka T, Hamasaki S, Tei C.
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| Am J Cardiol 99(12):1750-4. Epub 2007 Apr 26. 2007
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| 8 | CMD1MM, MYBPC3
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| Morphologic characteristics of hypertrophic cardiomyopathy of the elderly with cardiac myosin-binding protein C gene mutations.
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| Hirota T, Kitaoka H, Kubo T, Okawa M, Furuno T, Doi YL.
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| Circ J 70(7):875-9. 2006
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| 9 | CMD1MM, CMH1, MYBPC3, MYH7
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| Hypertrophic cardiomyopathy: two homozygous cases with typical hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy.
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| Nanni L, Pieroni M, Chimenti C, Simionati B, Zimbello R, Maseri A, Frustaci A, Lanfranchi G.
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| Biochem Biophys Res Commun 309(2):391-8. 2003
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| 10 | CMD1MM, MYBPC3
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| Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.
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| Moolman-Smook JC, et al.
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| J Med Genet 35 : 253-254. 1998
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| 11 | CMD1MM, MYBPC3
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| Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
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| Niimura H, et al.
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| N Engl J Med 338 : 1248-1257. 1998
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