DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance

PURPOSE: To describe a novel DNA2 variant contributing to defects in mtDNA maintenance and mtDNA depletion syndrome (MDS), and the clinical and histological findings associated with this variation. METHODS: Herein, we describe the case of a patient who presented with hearing loss and myopathy, given...

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Detalles Bibliográficos
Autores principales: Sun, Jiayu, Su, Wenwen, Deng, Jianwen, Qin, Yao, Wang, Zhaoxia, Liu, Yuhe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9691460/
https://www.ncbi.nlm.nih.gov/pubmed/36064591
http://dx.doi.org/10.1038/s10038-022-01075-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9691460/
https://www.ncbi.nlm.nih.gov/pubmed/36064591
http://dx.doi.org/10.1038/s10038-022-01075-4

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