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Hypertrophic cardiomyopathy 12
- ... HYPERTROPHIC, 25; CMH25 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7 CARDIOMYOPATHY, FAMILIAL ...
- ... Siegfried JD. Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genet Med. 2010 Nov;12(11):655-67. doi: 10.1097/GIM.0b013e3181f2481f. ...
- ... in the molecular genetics of left ventricular noncompaction cardiomyopathy. Clin Chim Acta. 2017 Feb;465:40-44. doi: 10.1016/j.cca.2016.12.013. Epub 2016 Dec 15. Citation on PubMed ...
- ... Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genet A. 2007 Jun 15;143A(12):1371-8. doi: 10.1002/ajmg.a.31791. ...
- ... L, Mandel H, Wevers RA. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet. 2011 Dec;7(12):e1002427. doi: 10.1371/journal.pgen.1002427. Epub ...
- ... WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1 ... ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9 ...
- ... proteins, multiple phenotypes. Lancet Neurol. 2003 Dec;2(12):731-40. doi: 10.1016/s1474-4422(03)00585-4. Citation on PubMed Nakamura A. X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy. Pharmaceuticals (Basel). 2015 ...
- ... cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol. 2007 ... MA. Salih Myopathy. 2012 Jan 12 [updated 2019 Apr 11]. In: Adam MP, Feldman ...
- ... characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), ... in males.In males with Barth syndrome, dilated cardiomyopathy is often present at birth or develops within ...
- ... have an enlarged and weakened heart muscle (hypertrophic cardiomyopathy), which is typically fatal in infancy or childhood. ... of ACAD9 deficiency, such as encephalomyopathy and hypertrophic cardiomyopathy. Although the exact mechanism is unclear, it is ...