Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.
We describe a second patient carrying the 5698G-->A transition in the mitochondrial DNA gene encoding tRNA(Asn), who has an apparently isolated mitochondrial myopathy with chronic progressive external ophthalmoplegia. A muscle biopsy showed the presence of ragged-red and COX-negative fibres. Analysis of the mutation load on single muscle fibres showed significant segregation of the 5698G-->A with COX-depleted fibres. These results indicate that the 5698G-->A is pathogenic.
Spinazzola
Antonella
A
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute C. Besta, via Temolo 4, 21033 Milan, Italy.
Carrara
Franco
F
Mora
Marina
M
Zeviani
Massimo
M
D000225:Adenine / Q000378:metabolism; D000368:Aged; D001483:Base Sequence / Q000235:genetics; D002908:Chronic Disease; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000378:metabolism; D006147:Guanine / Q000378:metabolism; D006801:Humans; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D009801:Oculomotor Muscles / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D017354:Point Mutation / Q000235:genetics*; D012348:RNA, Transfer, Asn / Q000235:genetics
D004272:DNA, Mitochondrial; D012348:RNA, Transfer, Asn; D006147:Guanine; D003576:Electron Transport Complex IV; D000225:Adenine