Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening

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• 作者：Olfa Alila-Fersi^a ; ^{alilafersiolfa@yahoo.fr} ; Imen Chamkha^b ; Imen Majdoub^c ; Lamia Gargouri^c ; Emna Mkaouar-Rebai^a ; Mouna Tabebi^d ; Abdelaziz Tlili^e ; Leila Keskes^d ; Abdelmajid Mahfoudh^c ; Faiza Fakhfakh^a ; ^{faiza.fakhfakh02@gmail.com}
• 关键词：Dilated mitochondrial cardiomyopathy ; Hearing loss ; m.1555A> ; G ; m.8605C> ; T ; m.8527A> ; G ; m.8932C> ; T
• 刊名：Biochemical and Biophysical Research Communications
• 出版年：2017
• 出版时间：26 February 2017
• 年：2017
• 卷：484
• 期：1
• 页码：71-78
• 全文大小：2152 K
• 卷排序：484

文摘

Two patients with dilated mitochondrial cardiomyopathy was studied. The m.1555A>G mutation in the MT-RNR1 gene was detected in patient 1. The m.8527A>G and the m.8932C>T mutations in the MT-ATP6 gene was detected in patient 1. The m.8605C>T mutation in the MT-ATP6 gene was detected in patient 2. A deleterious role of mutations in MT-ATP6 was supported.