Send to

Choose Destination
See comment in PubMed Commons below
Neurology. 2005 Jan 25;64(2):371-3.

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

Author information

  • 1Department of Neurology, The Medical School, University of Newcastle upon Tyne, UK.


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.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Support Center