Late-onset mitochondrial disorder with electromyographic evidence of myotonia.

Autor: Howse ML; Department of Neurology, Middlesbrough General Hospital, Middlesbrough, Teeside, United Kingdom., Wardell TM, Fisher CJ, Tilley PJ, Chinnery PF, Bindoff L
Jazyk: angličtina
Zdroj: Muscle & nerve [Muscle Nerve] 2003 Dec; Vol. 28 (6), pp. 757-9.
DOI: 10.1002/mus.10492
Abstrakt: 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.
Databáze: MEDLINE