SEVERE DEFECT IN MITOCHONDRIAL COMPLEX I ASSEMBLY WITH MITOCHONDRIAL DNA DELETIONS IN ACAD9-DEFICIENT MILD MYOPATHY

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作者： Fragaki, Konstantina ^[1] ; Chaussenot, Annabelle ^[2] ; Boutron, Audrey ^[3] ; Bannwarth, Sylvie ^[4] ; Cochaud, Charlotte ^[5] ; Richelme, Christian ; Sacconi, Sabrina ; Paquis-Flucklinger, Veronique

作者单位： Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, France ^[1] Paris Sud Teaching Hosp, Bicetre Hosp, AP HP, Dept Biochem, Paris, France ^[2] Nice Teaching Hosp, Natl Ctr Neuromuscular Disorders, Nice, France ^[3] Nice Teaching Hosp, Dept Pediat, Nice, France ^[4] Nice Sophia Antipolis Univ, Inst Res Canc & Aging IRCAN, CNRS, INSERM,UMR 7284, 28 Ave Valombrose ^[5]

关键词 ACAD9 mutation complex I deficiency complex I disassembly exercise intolerance mitochondrial myopathy mtDNA deletions

发布时间 2018-01-11

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