Article
Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation.
Neurology - 1 Nov 1998
Austin S A, Vriesendorp F J, Thandroyen F T, Hecht J T, Jones O T, Johns D R
Abstract excerpt
The A-to-G mutation at position 8344 in the transfer RNAlysine mitochondrial DNA gene is associated mostly with the myoclonic epilepsy and ragged red fibers syndrome. We describe a five-generation family with this mutation and 19 affected members with a variant neurologic syndrome of ataxia, myop...
Topics
- DNA, Mitochondrial
- Diabetes Mellitus
- Female
- Humans
- Hypertension
- Lipoma
- MERRF Syndrome
- Male
- Middle Aged
- Pedigree
- Phenotype
- Point Mutation
- RNA, Transfer, Lys