C10orf2 (twinkle) gene
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Introduction
10q23.3-q24.3
Pathology
- mutations are associated with autosomal dominant progressive external ophthalmoplegia
More general terms
References
- ↑ Spebrink JN et al Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nature Genetics 28:223, 2001 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11431692