Article
A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.
American journal of human genetics - 1 Sept 1992
Lertrit P, Noer A S, Jean-Francois M J, Kapsa R, Dennett X, Thyagarajan D, Lethlean K, Byrne E, Marzuki S
Abstract excerpt
The molecular lesions in two patients exhibiting classical clinical manifestations of MELAS (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes) syndrome have been investigated. A recently reported disease-related A----G base substitution at nt 3243 of the mtDNA, in the DHU lo...
Topics
- Acidosis, Lactic
- Adult
- Amino Acid Sequence
- Base Sequence
- Brain Diseases
- Cerebrovascular Disorders
- DNA, Mitochondrial
- Electron Transport Complex IV
- Female
- Humans
- Mitochondria
- Molecular Sequence Data
- Mutation
- NAD(P)H Dehydrogenase (Quinone)