MERRF
ORPHA:551· ICD-10 G71.3
Definition
A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Adult, Childhood