Article
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.
Biochemical and biophysical research communications - 18 Sept 1997
Santorelli F M, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays A P, DiMauro S
Abstract excerpt
We report a novel G13513A mutation in the mitochondrial ND5 gene in a patient who had morphologically and biochemically abnormal muscle mitochondria and died at age 45 with a diagnosis of MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The mutation affects an e...
Topics
- Amino Acid Sequence
- DNA, Mitochondrial
- Humans
- MELAS Syndrome
- Male
- Middle Aged
- Molecular Sequence Data
- Muscle, Skeletal
- Mutation
- Sequence Alignment
- Sequence Homology, Amino Acid