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Late-onset mitochondrial disorder with electromyographic evidence of myotonia

Lookup NU author(s): Dr Theresa Wardell, Dr Peter Tilley, Professor Patrick Chinnery

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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.

Publication metadata

Author(s): Howse MLP, Wardell TM, Fisher CJ, Tilley PJB, Chinnery PF, Bindoff L

Publication type: Article

Publication status: Published

Journal: Muscle and Nerve

Year: 2003

Volume: 28

Issue: 6

Pages: 757-759

ISSN (print): 0148-639X

ISSN (electronic): 1097-4598

Publisher: John Wiley & Sons, Inc.

URL: http://dx.doi.org/10.1002/mus.10492

DOI: 10.1002/mus.10492

PubMed id: 14639592

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