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Mitochondrial Encephalomyopathy Associated with a Novel Mutation in the Mitochondrial tRNAleu(UUR)Gene (A3243T)

✍ Scribed by Avraham Shaag; Ann Saada; Abraham Steinberg; Pnina Navon; Orly N. Elpeleg

Book ID: 115580137
Publisher: Elsevier Science
Year: 1997
Tongue: English
Weight: 91 KB
Volume: 233
Category: Article
ISSN: 0006-291X
DOI: 10.1006/bbrc.1997.6496

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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