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Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation
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 a family...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9131558/ https://www.ncbi.nlm.nih.gov/pubmed/35614445 http://dx.doi.org/10.1186/s12920-022-01276-y |