Article
Motor neuron disease in a patient with a mitochondrial tRNAIle mutation.
Annals of neurology - 1 Mar 2006
Borthwick Gillian M, Taylor Robert W, Walls Timothy J, Tonska Kasia, Taylor Geoffrey A, Shaw Pamela J, Ince Paul G, Turnbull Douglass M
Abstract excerpt
OBJECTIVE: Motor neuron disease (MND) is a common neurodegenerative condition for which the underlying cause is uncertain in many patients. We identified a patient with clinical features suggestive of MND but additional cardiac and metabolic symptoms. We wished to determine if the clinical features were due to a mitochondrial DNA mutation. METHODS: The brain and spinal cord were studied using neuropathological...
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