Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions.
In a patient with clinical features of myoclonus epilepsy with ragged red fibers (MERRF), molecular genetic analysis of mitochondrial DNA did not show either of the two point mutations typically associated with MERRF but did show multiple deletions by Southern blot. This case further illustrates the heterogeneity observed with mtDNA mutations.
Blumenthal
D T
DT
Department of Neurology, West Virginia University Hospitals, Morgantown, USA.
Shanske
S
S
Schochet
S S
SS
Santorelli
F M
FM
DiMauro
S
S
Jaynesm
M
M
Bodensteiner
J
J
D000293:Adolescent; D002531:Cerebellum / Q000473:pathology; D002950:Citrate (si)-Synthase / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000378:metabolism; D006801:Humans; D017243:MERRF Syndrome / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology; D018482:Muscle, Skeletal / Q000201:enzymology; D009245:NADH Dehydrogenase / Q000378:metabolism; D012150:Polymorphism, Restriction Fragment Length; D011689:Purkinje Cells / Q000473:pathology; D017384:Sequence Deletion; D013384:Succinate Cytochrome c Oxidoreductase / Q000378:metabolism; D013385:Succinate Dehydrogenase / Q000378:metabolism
D004272:DNA, Mitochondrial; D013384:Succinate Cytochrome c Oxidoreductase; D013385:Succinate Dehydrogenase; D009245:NADH Dehydrogenase; D003576:Electron Transport Complex IV; D002950:Citrate (si)-Synthase