Article
A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.
Annals of neurology - 1 Jan 1998
Tiranti V, D'Agruma L, Pareyson D, Mora M, Carrara F, Zelante L, Gasparini P, Zeviani M
Abstract excerpt
We describe a patient who presented with progressive ataxia, seizures, mental deterioration, mild myopathy, and hearing loss. A novel heteroplasmic G-to-A transition was found, affecting the acceptor stem of the mitochondrial (mt) tRNA(Val) gene. Mutant mtDNA was 67% of total mtDNA in the muscle...
Topics
- Base Sequence
- Cytochrome-c Oxidase Deficiency
- DNA, Mitochondrial
- Hearing Disorders
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Muscle Fibers, Skeletal
- Muscular Diseases
- Mutation
- Nervous System Diseases
- Polymorphism, Single-Stranded Conformational
- RNA
- RNA, Mitochondrial
- RNA, Transfer, Val
- Syndrome