Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation

• Main Authors: Ping Gu (Author), Guojian Wang (Author), Xue Gao (Author), Dongyang Kang (Author), Pu Dai (Author), Shasha Huang (Author)
• Format: Book
• Published: BMC, 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background The mitochondrial 12S rRNA A1555G mutation is the most prevalent deafness-causing mitochondrial DNA (mtDNA) mutation and is inherited maternally. Studies have suggested that A1555G mutations have multiple origins, although there is no direct evidence of this. Here, we identified...