Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA
โ Scribed by Dr.; MD W. D. Graf; MD S. M. Sumi; MD M. K. Copass; MD L. M. Ojemann; MD W. T. Longstreth Jr; PhD S. Shanske; MD A. Lombes; MD S. DiMauro
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 695 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
In addition to well-known mutations at nucleotide pair 8344 and 8356 in mitochondrial DNA in patients with myoclonus epilepsy associated with ragged-red fibers (MERRF), we found a new G-to-A point mutation at nucleotide 8363 in two Japanese families. The probands had the typical clinical characteris
We report a 64-year-old man presenting with multiple symmetric lipomatosis (MSL) and mitochondrial encephalomyoneuropathy. The diagnosis of a mitochondrial cytopathy was based on the typical clinical symptoms and signs, including chronic progressive external ophthalmoplegia, hearing impairment, cere