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Dilated cardiomyopathy 1S
- ... develop a form of heart disease called hypertrophic cardiomyopathy, which can lead to heart failure and an ... above, some people with congenital generalized lipodystrophy type 1 develop cysts in the long bones of the ...
- ... have a form of heart disease called hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle and ... Friedreich ataxia. Friedreich ataxia is estimated to affect 1 in 40,000 people in the United States. ...
- ... syndrome are also born with structural heart defects (cardiomyopathy) that affect the heart's ability to pump ... identified in females. Am J Cardiol. 1995 Oct 1;76(10):744-5. doi: 10.1016/s0002- ...
- ... liver (hepatomegaly), a weakened and enlarged heart (dilated cardiomyopathy), fluid-filled cysts and other malformations of the ... type II. Mol Genet Metab. 2008 Jan;93(1):36-9. doi: 10.1016/j.ymgme.2007. ...
- ... R, Mayatepek E, Bueltmann B, Korenke C. Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein ( ...
- ... feature of mitochondrial complex V deficiency is hypertrophic cardiomyopathy. This condition is characterized by thickening (hypertrophy) of ... MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR ...
- ... occur.A potentially life-threatening heart condition called cardiomyopathy is common in children with Vici syndrome. This ... with defective autophagy. Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub ...
- ... with these variants also have features of hypertrophic cardiomyopathy, a form of heart disease that enlarges and ... Am Heart J. 1999 Sep;138(3 Pt 1):403-13. doi: 10.1016/s0002-8703(99) ...
- ... that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy).Cardiofaciocutaneous syndrome is also characterized by distinctive facial ... for Rare Disorders (NORD) ClinicalTrials.gov CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1 PubMed Allanson JE, Anneren G, Aoki Y, ...
- ... exercise; droopy eyelids; or a weakened heart muscle (cardiomyopathy). Other features of this condition include excess ammonia ... seizures. Dihydrolipoamide dehydrogenase deficiency occurs in an estimated 1 in 35,000 to 48,000 individuals of ...