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Syndrome associated with dilated cardiomyopathy
- ... an accumulation of D-2-hydroxyglutarate may be associated with cardiomyopathy. More About This Health Condition Mutations in the IDH2 gene can cause Maffucci syndrome, a disorder that primarily affects the bones and ...
- ... Mariotti C, DiDonato S. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial ...
- ... Monaco M, Servidei S. Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene. Neuromuscul ... 3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation. 2006 Nov 14;114(20):2104-12. ...
- ... novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS. Ital Heart J. 2004 Jun;5(6):460-5. Citation on PubMed Taylor RW, Chinnery PF, Haldane F, Morris AA, Bindoff LA, Wilson J, Turnbull DM. MELAS associated with a mutation in the valine transfer RNA ...
- ... JS, Seidman CE, Seidman JG. Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy. Circulation. 2005 Nov 15;112(20):3140-8. ... Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy ... syndrome: natural history. J Am Coll Cardiol. 2005 Mar ...
- ... are the same disorder.Some SCN5A gene mutations associated with Brugada syndrome change single protein building blocks (amino acids) in ... SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 5; SCN5A CARDIOMYOPATHY, DILATED, ... VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1; VF1 ATRIAL FIBRILLATION, ...
- ... L. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation. 2005 Jul 5;112(1):54-9. ...
- ... Hall JG, Whitman M. A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis ...
- ... double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy. J Hum Genet. 2003;48(1):47-50. ...
- ... Fukuyama congenital muscular dystrophy. Children with Walker-Warburg syndrome tend to survive only into infancy or early childhood. The FKTN gene variants associated with this condition prevent the production of functional ...