Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10763865 | Biochemical and Biophysical Research Communications | 2011 | 6 Pages |
Abstract
⺠We report a young Tunisian patient with clinical features of MELAS syndrome. ⺠Reported mitochondrial mutations were absent after a mutational screening of the whole mtDNA. ⺠We described a novel m.1640A>G mutation in the tRNAVal gene which was absent in 150 controls. ⺠Mitochondrial deletions and POLG1 gene mutations were absent. ⺠The m.1640A>G mutation could be associated to MELAS syndrome.
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Authors
Najla Mezghani, Mouna Mnif, Maha Kacem, Emna Mkaouar-Rebai, Ikhlass Hadj Salem, Nozha Kallel, Nadia charfi, Mohamed Abid, Faiza fakhfakh,