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When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?

1 Oct 2014

Abstract excerpt

Myoclonic epilepsy associated with ragged red fibers (MERRF) is a rare mitochondrial disorder. Diagnostic criteria for MERRF include typical manifestations of the disease: myoclonus, generalized epilepsy, cerebellar ataxia and ragged red fibers (RRF) on muscle biopsy. Clinical features of MERRF are not necessarily uniform in the early stages of the disease, and correlations between clinical manifestations and...

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PMID: 25337734
DOI: 10.1590/0004-282x20140124

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