Article
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
Clinical genetics - 1 Dec 2021
van der Ven Amelie T, Johannsen Jessika, Kortüm Fanny, Wagner Matias, Tsiakas Konstantinos, Bierhals Tatjana, Lessel Davor, Herget Theresia, Kloth Katja, Lisfeld Jasmin, Scholz Tasja, Obi Nadia, Wortmann Saskia, Prokisch Holger, Kubisch Christian, Denecke Jonas, Santer René, Hempel Maja
Abstract excerpt
Neurological symptoms are frequent and often a leading feature of childhood-onset mitochondrial disorders (MD) but the exact incidence of MD in unselected neuropediatric patients is unknown. Their early detection is desirable due to a potentially rapid clinical decline and the availability of management options. In 491 children with neurological symptoms, a comprehensive diagnostic work-up including exome...
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