Visit Metagene.de!
Summary
CARDIOMYOPATHY, FAMILIAL DILATED
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC CARDIOMYOPATHY, FAMILIAL DILATED CMD1A
115200
OMIM = Online Medalian Inheritance of Men
300751
1q22
rare
autosomal dominant
autosomal recessive ?
Lamin A/C deficiency is probably the most common cause of familial dilated cardiomyopathy [Malhotra R 2009]
symptoms
cardiomegaly
cardiomyopathy
laboratory finding
Literature
Mitchell GAet al.Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiencyPrenat Diagn158725-7291995
Kamoun Pet al.Prenatal diagnosis of the urea cycle diseases: a survey of the European casesAm J Med Genet550247-2501995
Kamoun Pet al.Prenatal diagnosis of the urea cycle diseases: a survey of the European casesAm J Med Genet550247-2501995
Leonard JVAcute metabolic encephalopathy: an introductionJ Inherit Metab Dis283403-4062005
Rassoul Fet al.Long-term administration of the HMG-CoA reductase inhibitor lovastatin in two patients with cholesteryl ester storage diseaseInt J Clin Pharmacol Ther395199-2042001
Wu JDanielsson A, Zern MAToxicity of hepatotoxins: new insights into mechanisms and therapyExpert Opin Investig Drugs85585-6071999
Gibson KMLee CF, Wappner RS3-Methylglutaconyl-coenzyme A hydratase deficiency: a new caseJ Inherit Metab Dis133363-3661992
Ijlst LWanders RJA simple, straightforward assay for long-chain 3-hydroxyacyl-CoA dehydrogenase based on the use of N-ethylmaleimide: potential for pre- and postnatal diagnosisJ Inherit Metab Dis163568-5701993
Ijlst Let al.Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease causing mutation in the alpha-subunit of the mitochondrial trifunctional proteinBiochem Biophys Acta12150347-3501994
Hou JWWang TR3-Methylglutaconic aciduria presenting as Reye syndrome in a chinese boyJ Inherit Metab Dis185645-6461995
Tanaka AWolman disease and cholesteryl ester storage diseaseNippon Rinsho593337-3402001
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Mour Get al.Acute renal dysfunction in acetaminophen poisoningRen Fail274381-3832005
Narisawa Ket al.Deficiency of 3-methylglutaconyl coenzyme A hydratase in two siblings with 3-methylglutaconic aciduriaJ Clin Invest77011481986
Mitchell GAet al.HypertyrosinemiaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101077-11061995