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'.
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Moraes, C. A helicase is born. Nat Genet 28, 200–201 (2001). https://doi.org/10.1038/90020
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DOI: https://doi.org/10.1038/90020
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