Duplications of mitochondrial DNA in Kearns–Sayre syndrome
✍ Scribed by Dr. Joanna Poulton; Dr. Karl J. Morten; Dr. David Marchington; Dr. Katharin Weber; Dr. Garry K. Brown; Dr. Agnès Rötig; Dr. Laurence Bindoff
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 493 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Kearns-Sayre syndrome (KSS) is a sporadic multisystem mitochondrial disorder characterized by progressive external ophthalmoplegia, pigmentary retinopathy, onset before age 20, and severe cardiac conduction defects that can lead to death. KSS patients harbor partial deletions of mitochondrial DNA (⌬
## Abstract A 48‐year‐old man presented with a complex phenotype of myoclonus epilepsy with ragged‐red fibers (MERRF) syndrome and Kearns–Sayre syndrome (KSS), which included progressive myoclonus epilepsy, cerebellar ataxia, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopath