𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Unusual presentations of patients with the mitochondrial MERRF mutation A8344G

✍ Scribed by Falk R. Wiedemann; Claudius Bartels; Elmar Kirches; Christian Mawrin; Claus-W. Wallesch

Book ID
116369448
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
584 KB
Volume
110
Category
Article
ISSN
0303-8467

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Pathogenetic aspects of the A8344G mutat
Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas
✍ Dr. Nils-GΓΆran Larsson; Dr. Mar H. Tulinius; Dr. Elisabeth Holme; Dr. Anders Old πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 466 KB

Myoclonus epilepsy and ragged-red fibers syndrome (MERRF) is caused by a heteroplasmic mutation at nucleotide 8344 (A8344G) of the tRNA(Lys) gene of mitochondrial DNA (mtDNA). This mutation impairs mitochondrial protein synthesis and causes a respiratory chain dysfunction. The risk for transmission