Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders
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- 作者：Emna Mkaouar-Rebaia ; emna.mkaouar@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Rahma Felhib ; Mouna Tabebib ; Olfa Alila-Fersia ; Imen Chamkhaa ; Marwa Maalejb ; Marwa Ammarb ; Fatma Kammounc ; Leila Keskesb ; Mongia Hachichac ; Faiza Fakhfakha ; faiza.fakhfakh02@gmail.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Mitochondrial mutations ; mtDNA ; Mitochondrial duplication ; m.9157G> ; A ; m.14924T> ; C ; MT-ATP6
- 刊名：Biochemical and Biophysical Research Communications
- 出版年：2016
- 出版时间：29 April 2016
- 年：2016
- 卷：473
- 期：2
- 页码：578-585
- 全文大小：3006 K
文摘
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We reported 2 patients with mitochondrial neuromuscular disorders.
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The heteroplasmic MT-ATP6 9157G>A variation was reported.
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A triplication of 9 bp in the mitochondrial NC7 region was detected.
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The m.14924T>C transition (S60P) in the MT-CYB gene was found.