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

• Главные авторы: Ping Gu (Автор), Guojian Wang (Автор), Xue Gao (Автор), Dongyang Kang (Автор), Pu Dai (Автор), Shasha Huang (Автор)
• Формат: ‌
• Опубликовано: BMC, 2022-05-01T00:00:00Z.
• Предметы: article
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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...