Article
Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription.
Human molecular genetics - 1 May 1993
Suomalainen A, Majander A, Pihko H, Peltonen L, Syvänen A C
Abstract excerpt
The MELAS syndrome is a mitochondrial encephalomyopathy associated with a point mutation at nucleotide 3243 of mitochondrial DNA (mtDNA). The same mutation has also been found in patients with maternally inherited diabetes mellitus. The mutation occurs within a sequence needed for termination of...
Topics
- Adolescent
- Adult
- Aged
- Base Sequence
- Child
- Chromosome Mapping
- Clone Cells
- DNA, Mitochondrial
- Diabetes Mellitus, Type 2
- Female
- Humans
- Infant
- Infant, Newborn
- MELAS Syndrome
- Male
- Molecular Sequence Data
- Muscles
- Pedigree