Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys |
| |
Authors: | Horvath Rita Kley Rudolf Andre Lochmüller Hanns Vorgerd Matthias |
| |
Affiliation: | Friedrich-Baur-Institute and Department of Neurology, Ludwig-Maximilians-University, Munich, Germany. Rita.Horvath@lrz.uni-muenchen.de |
| |
Abstract: | We describe a patient who presented with parkinsonism associated with the A8344G myoclonus epilepsy, ataxia, and myopathy with ragged red fibers mutation in the tRNA(Lys) gene. In addition, neurogenic changes and mitochondrial myopathy with ragged red fibers were observed. Neither myoclonus epilepsy nor other clinical signs described in association with A8344G were noted. Similar to previously reported patients with parkinsonism and mtDNA deletions, the symptoms of our patient responded favorably to levodopa therapy. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|