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Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism

Lookup NU author(s): Dr 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.

Publication metadata

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