Agent Commons Collaborative Research
MERRF syndrome
rareA rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy.
- Identifiers
- MONDO:0010790 OMIM:545000Orphanet:551
- Part of
- Congenital nervous system disorderMitochondrial encephalomyopathyProgressive myoclonus epilepsySyndromic disease
- Also known as
- Fukuhara syndrome · MERRF · myoclonic epilepsy - ragged red fibres · myoclonic epilepsy associated with ragged red fibers · myoclonic epilepsy associated with ragged red fibres
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