Abstract
One of three loci previously associated with autosomal dominant progressive external ophthalmoplegia (adPEO) encodes ANT1, a mitochondrial nucleotide transporter. Now, mutations in two other genes are found in people with adPEO. One of these encodes a new helicase, Twinkle, which is related to the product of bacteriophage T7 gene 4, and co-localizes with mitochondrial DNA. The identification of Twinkle adds a new star to the expanding constellation of 'helicase diseases'.
Original language | English (US) |
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Pages (from-to) | 200-201 |
Number of pages | 2 |
Journal | Nature genetics |
Volume | 28 |
Issue number | 3 |
DOIs | |
State | Published - Jul 20 2001 |
ASJC Scopus subject areas
- Genetics