Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
Patrick FornyEmma FootittJames E DavisonAmanda LamCathy E WoodwardSpyros BatziosSanjay BhateAnupam ChakrapaniMaureen ClearyPaul GissenStephanie GrunewaldJane A HurstRichard ScottSimon HealesThomas S JacquesThomas CullupShamima RahmanPublished in: Neurology. Genetics (2021)
This is a Class II diagnostic accuracy study showing that the combination of CSF and plasma biochemical tests plus neuroimaging could predict the presence or absence of exome sequencing confirmed mitochondrial disorders.