Abstract |
We have sequenced the entire mitochondrial DNA ( mtDNA) from a 54-year-old man with chronic progressive external ophthalmoplegia (PEO) and hyperCKemia. Muscle biopsy showed ragged red and SDH positive/COX negative fibres, and the biochemistry was suggestive mitochondrial respiratory chain dysfunction. Analysis of mtDNA revealed a heteroplasmic m. 4308G>A mutation in the transfer RNA isoleucine gene (MT-TI gene). Our report expands the genetic heterogeneity of PEO.
|
Authors | Sihem Souilem, Saber Chebel, Michelangelo Mancuso, Lucia Petrozzi, Gabriele Siciliano, Mahbouba FrihAyed, Faycal Hentati, Rim Amouri |
Journal | Journal of the neurological sciences
(J Neurol Sci)
Vol. 300
Issue 1-2
Pg. 187-90
(Jan 15 2011)
ISSN: 1878-5883 [Electronic] Netherlands |
PMID | 20884012
(Publication Type: Case Reports, Journal Article)
|
Copyright | Copyright © 2010 Elsevier B.V. All rights reserved. |
Chemical References |
- RNA, Mitochondrial
- RNA, Transfer, Ile
- RNA
- Creatine Kinase
|
Topics |
- Creatine Kinase
(blood)
- Humans
- Male
- Middle Aged
- Muscle, Skeletal
(pathology)
- Ophthalmoplegia, Chronic Progressive External
(complications, enzymology, genetics, pathology)
- Point Mutation
- RNA
- RNA, Mitochondrial
- RNA, Transfer, Ile
(genetics)
|