Article
Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).
American journal of human genetics - 1 Sept 1991
Kobayashi Y, Momoi M Y, Tominaga K, Shimoizumi H, Nihei K, Yanagisawa M, Kagawa Y, Ohta S
Abstract excerpt
MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) is a major subgroup of heterogeneous mitochondrial diseases. For identifying a mutation in the mitochondrial gene, we isolated, from the same muscle tissue from a patient with MELAS, cell lines with distinctl...
Topics
- Acidosis, Lactic
- Asian People
- Base Sequence
- Brain Diseases
- Cell Line
- Cerebrovascular Disorders
- Child
- DNA, Mitochondrial
- Female
- Humans
- Mitochondria