Mitochondrial respiratory chain function was investigated with polarographic and enzymatic studies, and correlated with immunoblot studies using a battery of probes against respiratory chain holocomplexes in a series of patients with myoclonus epilepsy and ragged red fibers (MERRF) syndrome. State I
Myoclonus epilepsy and ragged-red fibers: blood mitochondrial DNA heteroplasmy in affected and asymptomatic members of a family
โ Scribed by G. Piccolo; F. Focher; A. Verri; S. Spadari; P. Banfi; E. Gerosa; P. Mazzarello
- Book ID
- 114784026
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 409 KB
- Volume
- 88
- Category
- Article
- ISSN
- 0001-6314
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