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- Title
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.
- Authors
Martin-Negrier, M-L; Sole, G; Jardel, C; Vital, C; Ferrer, X; Vital, A
- Abstract
Multiple mitochondrial DNA (mtDNA) deletions usually have a mendelian inheritance secondary to mutation in nuclear genes. One of these is the Twinkle gene whose mutation is responsible for autosomal dominant progressive external ophthalmoplegia (PEO). The number of reported cases with mainly myopathic symptoms and possible nervous system involvement related to Twinkle gene mutation is limited. We present a new French family of whom two members displayed myopathy and neuropathy associated with PEO, and we perform a clinical review in light of other observations reported in the literature.
- Publication
European journal of neurology, 2011, Vol 18, Issue 3, p436
- ISSN
1468-1331
- Publication type
Journal Article
- DOI
10.1111/j.1468-1331.2010.03171.x