A Tunisian patient with Pearson syndrome harboring the 4.977Â kb common deletion associated to two novel large-scale mitochondrial deletions

Article ID	Journal	Published Year	Pages	File Type
10763150	Biochemical and Biophysical Research Communications	2011	6 Pages	PDF

Abstract

âº We reported a Tunisian patient with clinical features of Pearson syndrome. âº The detected common 4.977Â kb mitochondrial deletion (nt 8483-13459). âº Long-range PCR amplification revealed the presence of two novel mitochondrial deletions. âº The 5.030Â kb deletion (8131-13160) was located in 11Â bp imperfect direct repeats âº The 5.234Â kb deletion (8051-13284) was flanked by 12Â bp imperfect direct repeats.

Keywords

Mitochondrial DNA mtDNA deletions common deletion Pearson syndrome Heteroplasmy

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry

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A Tunisian patient with Pearson syndrome harboring the 4.977Â kb common deletion associated to two novel large-scale mitochondrial deletions

Authors

Imen Ben Ayed, Imen Chamkha, Emna Mkaouar-Rebai, Thouraya Kammoun, Najla Mezghani, Imen Chabchoub, Hajer Aloulou, Mongia Hachicha, Faiza Fakhfakh,