Article
A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis.
Neuropediatrics - 1 Dec 2008
Tam E W Y, Feigenbaum A, Addis J B L, Blaser S, Mackay N, Al-Dosary M, Taylor R W, Ackerley C, Cameron J M, Robinson B H
Abstract excerpt
Cytochrome c oxidase (COX) is the terminal enzyme of the respiratory chain, with subunits originating both from the mitochondrial and nuclear genome. An eleven-year-old female presented initially with a seizure followed two months later with tonic-clonic seizures, weakness and aphasia. MRI of the cerebral hemispheres showed multiple infarcts. Previous history suggested gross and fine motor control deficits with...
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