Matthias Christen

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NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model - Scientific Reports

Feb 4, 2024 | nature.com | Matthias Christen |Anne Gregor |Rodrigo Gutierrez-Quintana |Jos Bongers |Angie Rupp |G. Diane Shelton | +2 more

AbstractTwo Jack-Russell Terrier × Chihuahua mixed-breed littermates with Leigh syndrome were investigated. The dogs presented with progressive ataxia, dystonia, and increased lactate levels. Brain MRI showed characteristic bilateral symmetrical T2 hyperintense lesions, histologically representing encephalomalacia. Muscle histopathology revealed accumulation of mitochondria.

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