Article
Clinical heterogeneity in two pedigrees with the 3243 bp tRNA(Leu(UUR)) mutation of mitochondrial DNA.
Acta neurologica Scandinavica - 1 Jan 1995
Campos Y, Bautista J, Gutiérrez-Rivas E, Chinchón D, Cabello A, Segura D, Arenas J
Abstract excerpt
We studied two pedigrees with a mutation at the nucleotide 3243 of mitochondrial DNA (mtDNA). The proband from the first pedigree had clinically defined MELAS plus maternally transmitted insulin-dependent diabetes mellitus (IDDM). The propositus of the other pedigree had exercise intolerance, lac...
Topics
- Adult
- DNA Primers
- DNA, Mitochondrial
- Diabetes Mellitus, Type 1
- Electrophoresis, Agar Gel
- Female
- Humans
- MELAS Syndrome
- Male
- Middle Aged
- Mitochondria, Muscle
- Mutagenesis
- Pedigree
- Phenotype
- Point Mutation
- RNA, Transfer, Leu