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Lipoma and opthalmoplegia in mitochondrial diabetes associated with small heteroplasmy level of 3243 tRNALeu(UUR) mutation

✍ Scribed by Yoshihiko Suzuki; K Nishimaki; M Taniyama; T Muramatsu; Y Atsumi; K Matsuoka; S Ohta

Book ID: 116405129
Publisher: Elsevier Science
Year: 2004
Tongue: English
Weight: 373 KB
Volume: 63
Category: Article
ISSN: 0168-8227
DOI: 10.1016/j.diabres.2003.10.024

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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