title: Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation).
abstract: The A to G transition at nt.3243 of the tRNALeu(UUR) gene of mtDNA, commonly associated with MELAS, was detected in several members of a family affected by a maternally inherited form of hypertrophic cardiomyopathy. These findings suggest adding cardiomyopathy in the list of phenotypes associated with the 3243 mutation.
authors.affiliation: Institute of Neurology, Catholic University, Rome, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Silvestri
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: S
authors.initials: S
authors.lastname: Servidei
authors.forename: M
authors.initials: M
authors.lastname: Rana
authors.forename: E
authors.initials: E
authors.lastname: Zachara
authors.forename: E
authors.initials: E
authors.lastname: Ricci
authors.forename: P
authors.initials: P
authors.lastname: Tonali
mesh_terms: D000328:Adult; D001706:Biopsy; D009202:Cardiomyopathies / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D004569:Electroencephalography; D004576:Electromyography; D003576:Electron Transport Complex IV / Q000378:metabolism; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics*; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000201:enzymology / Q000473:pathology; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009206:Myocardium / Q000201:enzymology / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D013385:Succinate Dehydrogenase / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV