Article
Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.
American journal of human genetics - 1 May 1995
Hao H, Bonilla E, Manfredi G, DiMauro S, Moraes C T
Abstract excerpt
We have identified a novel mtDNA mutation in a 29-year-old man with myopathy and diabetes mellitus. This T-->C transition at mtDNA position 14709 alters an evolutionarily conserved nucleotide in the region specifying for the anticodon loop of the mitochondrial tRNA(Glu). The nt-14709 mutation was...
Topics
- Adult
- Anticodon
- Base Sequence
- DNA, Mitochondrial
- Diabetes Complications
- Diabetes Mellitus
- Female
- Humans
- Male
- Meiosis
- Mitochondrial Myopathies
- Molecular Sequence Data
- Muscles
- Pedigree
- Phenotype
- Point Mutation
- Protein Biosynthesis
- RNA, Transfer, Glu