Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions

D. T. Blumenthal, S. Shanske, S. S. Schochet, F. M. Santorelli, S. Dimauro, M. Jaynesm, J. Bodensteiner

Research output: Contribution to journalArticlepeer-review


In a patient with clinical features of myoclonus epilepsy with ragged red fibers (MERFF), molecular genetic analysis of mitochondrial DNA did not show either of the two point mutations typically associated with MERRF but did show multiple deletions by Southern blot. This case further illustrates the heterogeneity observed with mtDNA mutations.

Original languageEnglish
Pages (from-to)524-525
Number of pages2
Issue number2
Publication statusPublished - Feb 1998

ASJC Scopus subject areas

  • Neuroscience(all)


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