Article
The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.
Annals of neurology - 1 Dec 1999
Pulkes T, Eunson L, Patterson V, Siddiqui A, Wood N W, Nelson I P, Morgan-Hughes J A, Hanna M G
Abstract excerpt
We report on 4 male patients with clinical, radiological, and muscle biopsy findings typical of the mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) phenotype. Skeletal muscle mitochondrial DNA (mtDNA) analysis showed that all patients harbored a heteroplasmic G13513A mutation in the ND5 subunit gene. One of these cases (Patient 1) presented with symptoms characteristic of...
Topics
- Adult
- DNA, Mitochondrial
- Electron Transport Complex I
- Electron Transport Complex IV
- Female
- Genetic Predisposition to Disease
- Humans
- MELAS Syndrome
- Male
- Mitochondria, Muscle
- Muscle, Skeletal
- NADH, NADPH Oxidoreductases
- Optic Atrophies, Hereditary