Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation).
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.
Silvestri
G
G
Institute of Neurology, Catholic University, Rome, Italy.
Bertini
E
E
Servidei
S
S
Rana
M
M
Zachara
E
E
Ricci
E
E
Tonali
P
P
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
D004272:DNA, Mitochondrial; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV