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

• Principais autores: Ping Gu (Autor), Guojian Wang (Autor), Xue Gao (Autor), Dongyang Kang (Autor), Pu Dai (Autor), Shasha Huang (Autor)
• Formato: Livro
• Publicado em: BMC, 2022-05-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...