Article
Late-onset mitochondrial disorder with electromyographic evidence of myotonia.
Muscle & nerve - 1 Dec 2003
Howse Mathew L P, Wardell Theresa M, Fisher Christopher J, Tilley Peter J B, Chinnery Patrick F, Bindoff Laurence
Abstract excerpt
We describe a patient with chronic progressive external ophthalmoplegia (CPEO) due to a deletion of mitochondrial DNA (mtDNA) who had electromyographic evidence of myotonic discharges. Myotonia has not previously been described in association with mitochondrial disease and this report extends the known phenotypic expression of these disorders.
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