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The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders

✍ Scribed by M. J. Molnar; J. Perenyi; E. Siska; G. Nemeth; Z. Nagy

Publisher
Springer
Year
2009
Tongue
English
Weight
143 KB
Volume
256
Category
Article
ISSN
0340-5354

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Myoclonus epilepsy and ragged-red fibers syndrome (MERRF) is caused by a heteroplasmic mutation at nucleotide 8344 (A8344G) of the tRNA(Lys) gene of mitochondrial DNA (mtDNA). This mutation impairs mitochondrial protein synthesis and causes a respiratory chain dysfunction. The risk for transmission

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## ~~ We studied a patient with a rnitochondrial encephalomyopathy characterized by the presence of all the cardinal features of both myoclonic epilepsy and ragged-red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndromes. Muscle biopsy show