Mitochondrial DNA depletion in a patient with long survival.
We studied a 29-year-old woman with myopathy since childhood with evidence of mitochondrial DNA (mtDNA) depletion. Muscle biopsy sample showed cytochrome c oxidase (COX)-negative fibers. Biochemistry showed COX deficiency. Southern blot analysis showed 76% depletion of mtDNA as compared with controls. This patient's clinical course suggests that long survival is possible in some patients with mtDNA depletion.
Vu
T H
TH
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians & Surgeons, New York, NY 10032, USA.
Tanji
K
K
Valsamis
H
H
DiMauro
S
S
Bonilla
E
E
D000328:Adult; D001706:Biopsy; D015139:Blotting, Southern; D030401:Cytochrome-c Oxidase Deficiency; D004272:DNA, Mitochondrial / Q000032:analysis / Q000378:metabolism*; D005260:Female; D006801:Humans; D017240:Mitochondrial Myopathies / Q000235:genetics / Q000378:metabolism* / Q000401:mortality; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D013385:Succinate Dehydrogenase / Q000378:metabolism; D017741:Survivors
D004272:DNA, Mitochondrial; D013385:Succinate Dehydrogenase