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Late‐onset mitochondrial disorder with electromyographic evidence of myotonia
Author(s) -
Howse Mathew L.P.,
Wardell Theresa M.,
Fisher Christopher J.,
Tilley Peter J.B.,
Chinnery Patrick F.,
Bindoff Laurence
Publication year - 2003
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.10492
Subject(s) - myotonia , chronic progressive external ophthalmoplegia , mitochondrial dna , mitochondrial myopathy , myotonic dystrophy , mitochondrial disease , external ophthalmoplegia , medicine , electromyography , genetics , biology , physical medicine and rehabilitation , gene
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. Muscle Nerve 28: 757–759, 2003