Late-onset mitochondrial disorder with electromyographic evidence of myotonia.
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.
Howse
Mathew L P
ML
Department of Neurology, Middlesbrough General Hospital, Middlesbrough, Teeside, United Kingdom.
Wardell
Theresa M
TM
Fisher
Christopher J
CJ
Tilley
Peter J B
PJ
Chinnery
Patrick F
PF
Bindoff
Laurence
L
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
D004272:DNA, Mitochondrial