Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNALys A8344G mutation in mitochondrial DNA

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-Göran Larsson; Dr. Mar H. Tulinius; Dr. Elisabeth Holme; Dr. Anders Old 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 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