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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene

✍ Scribed by Nancy Monroy; Luis R. Macías Kauffer; Osvaldo M. Mutchinick

Book ID: 116433078
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 276 KB
Volume: 51
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2007.12.007

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We have identified a new mutation in the tRNA(Lys) gene of mtDNA, in a 49-year-old patient with mitochondrial encephalomyopathy. The mutation is a heteroplasmic G-->A transition at position 8328, which affects the anticodon stem loop at a conserved site. The mutation was neither found in 100 control