MITOCHONDRIAL-DNA DEPLETION IN A PATIENT WITH LONG SURVIVAL

Authors
VU TH TANJI K VALSAMIS H DIMAURO S BONILLA E
Citation
Th. Vu et al., MITOCHONDRIAL-DNA DEPLETION IN A PATIENT WITH LONG SURVIVAL, Neurology, 51(4), 1998, pp. 1190-1193
Citations number
9
Categorie Soggetti
Clinical Neurology
Journal title
Neurology → ACNP
ISSN journal
00283878
Volume
51
Issue
4
Year of publication
1998
Pages
1190 - 1193
Database
ISI
SICI code
0028-3878(1998)51:4<1190:MDIAPW>2.0.ZU;2-X
Abstract
We studied a 29-year-old woman with myopathy since childhood with evid ence of mitochondrial DNA (mtDNA) depletion. Muscle biopsy sample show ed cytochrome c oxidase (COX)-negative fibers. Biochemistry showed COX deficiency. Southern blot analysis showed 76% depletion of mtDNA as c ompared with controls. This patient's clinical course suggests that lo ng survival is possible in some patients with mtDNA depletion.