Boshra Ismael Ahmed Arnout, Thabet Saeed AlQahtani, Hessah A L Melweth
Competitive capabilities of higher education institutions from their Employees' perspectives: A case study of King Khalid University
PloS one
objective study evaluate implementation ngs within french mitochondrial network mitodiag targeted gene panels whole exome sequencing wes whole genome sequencing wgs focusing mitochondrial nuclearencoded genes 2000 patients suspected primary mitochondrial diseases pmd sequenced either targeted gene panels wes wgs within mitodiag described clinical biochemical molecular data 397 genetically confirmed patients comprising 294 children 103 adults carrying pathogenic likely pathogenic variants nuclearencoded genes cohort exhibited large genetic heterogeneity identification 172 distinct genes 253 novel variants among children notable prevalence pathogenic variants genes associated oxidative phosphorylation oxphos functions mitochondrial translation observed adults pathogenic variants primarily identified genes linked mtdna maintenance additionally substantial proportion patients 54 4278 48 1327 children adults respectively undergoing wes wgs testing displayed pmd mimics representing pathologies clinically resemble mitochondrial diseases reported largest french cohort patients suspected pmd pathogenic variants nuclear genes emphasized clinical complexity pmd challenges associated recognizing distinguishing pathologies particularly neuromuscular disorders confirmed weswgs instead panel approach valuable identify genetic basis patients possible pmd provided genetic testing flowchart guide physicians diagnostic strategy