MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation.
The A to G transition mutation at position 3260 of the mitochondrial genome is usually associated with cardiomyopathy and myopathy. One Japanese kindred reported the phenotype of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome) in association with the A3260G mtDNA mutation. We describe the first Caucasian cases of MELAS syndrome associated with the A3260G mutation. Furthermore, this mutation was associated with exercise-induced rhabdomyolysis, hearing loss, seizures, cardiomyopathy, and autism in the large kindred. We conclude that the A3260G mtDNA mutation is associated with wide phenotypic heterogeneity with MELAS and other "classical" mitochondrial phenotypes being manifestations.
Connolly
Barbara S
BS
Department of Medicine, Hamilton Health Sciences, Hamilton, ON, Canada.
Feigenbaum
Annette S J
AS
Robinson
Brian H
BH
Dipchand
Anne I
AI
Simon
David K
DK
Tarnopolsky
Mark A
MA
D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D009202:Cardiomyopathies / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D050259:Genes, Mitochondrial; D020022:Genetic Predisposition to Disease; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D010375:Pedigree; D017354:Point Mutation; D012206:Rhabdomyolysis / Q000235:genetics*; D055815:Young Adult
D004272:DNA, Mitochondrial