Article
Friedreich-like ataxia as an initial manifestation of mitochondrial DNA 8344A>G mutation.
Journal of child neurology - 1 Aug 2012
Chevallier Justyna A, Koenig Mary Kay
Abstract excerpt
A previously healthy 10-year-old girl presented with subacute onset of ataxia and acute-onset cardiac and pulmonary failure. Magnetic resonance imaging (MRI) of the brain showed symmetric T2 fluid-attenuated inversion recovery hyperintensities in the dorsal pons, medulla, and inferior cerebellar peduncles; nerve conduction velocities and electromyography demonstrated a sensorimotor axonal neuropathy consistent...
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