Saturday, January 14, 2012

Friedreich-Like Ataxia as an Initial Manifestation of Mitochondrial DNA 8344A>G Mutation.

J Child Neurol. 2012 Jan 12.

Chevallier JA, Koenig MK.
Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas Health Science Center, Houston, TX, USA.

Keywords: subacute onset of ataxia, acute-onset cardiac and pulmonary failure, Magnetic resonance imaging (MRI),nerve conduction velocities, electromyography, sensorimotor axonal neuropathy, Friedreich ataxia, molecular testing of the frataxin gene, mutation at 8344A>G in transfer RNA lysine.