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Clinical, morphological, molecular and biochemical data on the selected myoclonic epilepsy with ragged-red fibers (MERRF) patient. Severity of myopathological features: absent (−) to severe (++++).
| Description | MERRF |
|---|---|
| age at biopsy (years) | 50 |
| ragged-blue fibers (RBF) | +++ |
| cytochrome c oxidase (COX) negative RBF | + |
| % m.8344A>G mtDNA mutation | muscle: 78; blood: 65 |
| % muscle COX activity (normalized for citrate synthase) | 60 |
