Article
Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA.
Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2003
Peng Ying, Crumley Roger, Ringman John M
Abstract excerpt
Dystonia has been described in various diseases affecting mitochondrial function but spasmodic dysphonia, a form of focal dystonia, has not. We present a patient with action myoclonus affecting the hands and arms who carried the most common mutation in mitochondrial DNA causing the myoclonic epilepsy and ragged red fibers (MERRF) syndrome (the A-->G substitution at nucleotide 8344 in the tRNA(Lys) gene). This...
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