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Hypertrophic cardiomyopathy 17
- ... HYPERTROPHIC, 14; CMH14 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15; CMH15 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17; CMH17 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18; CMH18 CARDIOMYOPATHY, FAMILIAL ...
- ... sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. Eur J Hum Genet. 2009 Oct;17(10):1241-9. doi: 10.1038/ejhg.2009. ...
- ... Straub V. Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? Eur J Hum Genet. 2009 Sep;17(9):1148-53. doi: 10.1038/ejhg.2009. ...
- ... a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000 Jun 17;355(9221):2119-24. doi: 10.1016/S0140- ...
- ... a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000 Jun 17;355(9221):2119-24. doi: 10.1016/S0140- ...
- ... plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 2004 Nov;36(11):1162-4. doi: 10.1038/ng1461. Epub 2004 Oct 17. Erratum In: Nat Genet. 2005 Jan;37(1): ...
- ... M, Rampazzo A, Lorenzon A. Arrhythmogenic right-ventricular cardiomyopathy: molecular genetics into clinical practice in the era of next generation sequencing. J Cardiovasc Med (Hagerstown). 2016 Jun;17(6):399-407. doi: 10.2459/JCM.0000000000000385. ...
- ... mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res. 2006 Sep 15;99(6):646-55. doi: 10.1161/01.RES.0000241482.19382.c6. Epub 2006 Aug 17. Citation on PubMed
- ... A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis. Neuromuscul Disord. 2006 Mar;16(3):178-82. doi: 10.1016/j.nmd.2005.12.004. Epub 2006 Feb 17. Citation on PubMed Murphy RT, Mogensen J, McGarry ...
- ... Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circ Cardiovasc Genet. 2013 Apr;6(2):144- ...