title: Late-onset mitochondrial disorder with electromyographic evidence of myotonia.
abstract: 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.
authors.affiliation: Department of Neurology, Middlesbrough General Hospital, Middlesbrough, Teeside, United Kingdom.
authors.forename: Mathew L P
authors.initials: ML
authors.lastname: Howse
authors.forename: Theresa M
authors.initials: TM
authors.lastname: Wardell
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Fisher
authors.forename: Peter J B
authors.initials: PJ
authors.lastname: Tilley
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: Laurence
authors.initials: L
authors.lastname: Bindoff
mesh_terms: D000368:Aged; D004272:DNA, Mitochondrial / Q000235:genetics; D004576:Electromyography; D005260:Female; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D018482:Muscle, Skeletal / Q000473:pathology; D009222:Myotonia / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000150:complications / Q000503:physiopathology; D010641:Phenotype
chemical_list: D004272:DNA, Mitochondrial