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
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.