Ophthalmoplegia

Publication Title: 
PloS One

The human gene C10orf2 encodes the mitochondrial replicative DNA helicase Twinkle, mutations of which are responsible for a significant fraction of cases of autosomal dominant progressive external ophthalmoplegia (adPEO), a human mitochondrial disease caused by defects in intergenomic communication. We report the analysis of orthologous mutations in the Drosophila melanogaster mitochondrial DNA (mtDNA) helicase gene, d-mtDNA helicase.

Author(s): 
Sanchez-Martinez, Alvaro
Calleja, Manuel
Peralta, Susana
Matsushima, Yuichi
Hernandez-Sierra, Rosana
Whitworth, Alexander J.
Kaguni, Laurie S.
Garesse, Rafael
Publication Title: 
Journal of Traditional Chinese Medicine = Chung I Tsa Chih Ying Wen Pan / Sponsored by All-China Association of Traditional Chinese Medicine, Academy of Traditional Chinese Medicine
Author(s): 
Yuan, Xuhong
Publication Title: 
Journal of Traditional Chinese Medicine = Chung I Tsa Chih Ying Wen Pan / Sponsored by All-China Association of Traditional Chinese Medicine, Academy of Traditional Chinese Medicine
Author(s): 
Liu, Jian
Publication Title: 
Journal of Traditional Chinese Medicine = Chung I Tsa Chih Ying Wen Pan / Sponsored by All-China Association of Traditional Chinese Medicine, Academy of Traditional Chinese Medicine
Author(s): 
Li, Zhongtai
Publication Title: 
Journal of Traditional Chinese Medicine = Chung I Tsa Chih Ying Wen Pan / Sponsored by All-China Association of Traditional Chinese Medicine, Academy of Traditional Chinese Medicine
Author(s): 
Liu, Jian
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