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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Nature Singapore
2022
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| Materias: | |
| 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 |