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Lookup NU author(s): Professor Gavin Hudson, Professor Patrick Chinnery
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The authors describe siblings with progressive external ophthalmoplegia (PEO) due to a novel heterozygous A to G transition at nucleotide 955 of C10Orf2 (Twinkle). The mutation was not identified in parents' blood, hair follicles, buccal mucosa, or urinary epithelium, indicating germ line mosaicism. One sibling presented with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), a phenotype previously associated with the POLG1 gene, highlighting the clinical overlap in autosomal PEO.
Author(s): Hudson G, Deschauer M, Busse K, Zierz S, Chinnery PF
Publication type: Article
Publication status: Published
Journal: Neurology
Year: 2005
Volume: 64
Issue: 2
Pages: 371-373
ISSN (print): 0028-3878
ISSN (electronic): 1526-632X
Publisher: Lippincott Williams & Wilkins
PubMed id: 15668446
