DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance

PurposeTo 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.MethodsHerein, we describe the case of a patient who presented with hearing loss and myopathy, given the...

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Veröffentlicht in:	Journal of human genetics 2022-12, Vol.67 (12), p.691-699
Hauptverfasser:	Sun, Jiayu, Su, Wenwen, Deng, Jianwen, Qin, Yao, Wang, Zhaoxia, Liu, Yuhe
Format:	Artikel
Sprache:	eng
Schlagworte:	Biopsy Copy number Deafness Genomes Hearing loss Membrane potential Mitochondrial DNA Myopathy Patients Reactive oxygen species
Online-Zugang:	Volltext
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