Article
A Drosophila model of mitochondrial disease phenotypic heterogeneity.
Biology open - 15 Feb 2024
Granat Lucy, Knorr Debbra Y, Ranson Daniel C, Chakrabarty Ram Prosad, Chandel Navdeep S, Bateman Joseph M
Abstract excerpt
Mutations in genes that affect mitochondrial function cause primary mitochondrial diseases. Mitochondrial diseases are highly heterogeneous and even patients with the same mitochondrial disease can exhibit broad phenotypic heterogeneity, which is poorly understood. Mutations in subunits of mitochondrial respiratory complex I cause complex I deficiency, which can result in severe neurological symptoms and death in...
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