Chomyn, Anne (1998) The Myoclonic Epilepsy and Ragged-Red Fiber Mutation Provides New Insights into Human Mitochondrial Function and Genetics. American Journal of Human Genetics, 62 (4). pp. 745-751. ISSN 0002-9297. http://resolver.caltech.edu/CaltechAUTHORS:20111222-100052561
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Of the ~50 mtDNA point mutations, reported so far, that cause disease in humans, ≥ 35 occur in tRNA genes (Schon et al. 1997). Of these, perhaps the best-studied is the A → G transition at position 8344 in the tRNA^(Lys) gene, the mutation that causes myoclonic epilepsy and ragged-red fiber syndrome (MERRF; Shoffner et al. 1990). This disorder is an encephalomyopathy characterized by myoclonic epilepsy, ataxia, and mitochondrial myopathy, with additional dysfunction, in some individuals, in tissues other than brain and skeletal muscle (Schon et al. 1997). Histological analysis of transverse sections of a MERRF patient’s skeletal muscle, stained with Gomori’s modified trichrome stain, reveals the presence of “ragged red fibers,” muscle fibers that exhibit peripheral blotchy, red patches that represent subsarcolemmal accumulations of mitochondria.
|Additional Information:||© 1998 by The American Society of Human Genetics. Received 6 February 1998; Accepted 16 February 1998. Available online 30 October 2007. Space limitations restricted the number of citations in this review. I apologize to those colleagues whose contributions I have been unable to acknowledge. I thank G. Attardi for helpful discussions and comments on the manuscript and for communicating unpublished results. I thank also the National Institutes of Health (grant GM11726) for support.|
|Subject Keywords:||MERRF; Mitochondrial disease; Mutations mitochondrial|
|Official Citation:||Anne Chomyn, The Myoclonic Epilepsy and Ragged-Red Fiber Mutation Provides New Insights into Human Mitochondrial Function and Genetics, The American Journal of Human Genetics, Volume 62, Issue 4, April 1998, Pages 745-751, ISSN 0002-9297, 10.1086/301813.|
|Usage Policy:||No commercial reproduction, distribution, display or performance rights in this work are provided.|
|Deposited By:||Tony Diaz|
|Deposited On:||09 Jan 2012 19:29|
|Last Modified:||23 Aug 2016 10:08|
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