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Hypertrophic cardiomyopathy 17
- ... 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- ...
- ... 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. Citation on PubMed Hall C, Li S, Li ...
- ... 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- ...
- ... alteration in the MT-TK gene results in cardiomyopathy, hearing loss, and other symptoms. ... F, Andermann E, Carpenter S, Karpati G. Clinical spectrum of mitochondrial DNA mutation at base pair 8344. Lancet. 1991 Aug 17;338(8764):457. doi: 10.1016/0140-6736( ...
- ... Biochim Biophys Acta. 2007 Feb;1772(2):108-17. doi: 10.1016/j.bbadis.2006.05.010. Epub 2006 Jun 7. Citation on PubMed Ferlini A, Sewry C, Melis MA, Mateddu A, Muntoni F. X-linked dilated cardiomyopathy and the dystrophin gene. Neuromuscul Disord. 1999 Jul; ...
- ... WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1 ... Epub 2007 Sep 17. Citation on PubMed Cerrone M, Napolitano C, Priori ...