Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis

Mitochondrial diseases (MDs) were a large group multisystem disorders, attributable in part to the dual genomic control. The advent of massively sequencing has improved diagnostic rates and speed, and was increasingly being used as a first-line diagnostic test. Paediatric patients (aged

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Veröffentlicht in:	Scientific reports 2023-03, Vol.13 (1), p.4193-4193, Article 4193
Hauptverfasser:	Wu, Teng-Hui, Peng, Jing, Yang, Li, Chen, Yan-Hui, Lu, Xiu-Lan, Huang, Jiao-Tian, You, Jie-Yu, Ou-Yang, Wen-Xian, Sun, Yue-Yu, Xue, Yi-Nan, Mao, Xiao, Yan, Hui-Ming, Ren, Rong-Na, Xie, Jing, Chen, Zhi-Heng, Zhang, Victor-Wei, Lyu, Gui-Zhen, He, Fang
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/1516 692/699/375 Aspartate-tRNA Ligase Carbon dioxide Child DNA, Mitochondrial - genetics Genetic screening Genomics Humanities and Social Sciences Humans Mitochondria Mitochondrial Diseases - diagnosis Mitochondrial Diseases - genetics Mitochondrial DNA multidisciplinary Mutation Pediatrics Retrospective Studies Science Science (multidisciplinary)
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Beschreibung
Zusammenfassung:	Mitochondrial diseases (MDs) were a large group multisystem disorders, attributable in part to the dual genomic control. The advent of massively sequencing has improved diagnostic rates and speed, and was increasingly being used as a first-line diagnostic test. Paediatric patients (aged
ISSN:	2045-2322 2045-2322
DOI:	10.1038/s41598-023-31134-5