Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.

@article{Bohlega2009NovelTG,
  title={Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.},
  author={Saeed A. Bohlega and Gert van Goethem and Abdulaziz Al Semari and Ann L{\"o}fgren and Mohamed Al Hamed and Christine van Broeckhoven and Marios Kambouris},
  journal={Neuromuscular disorders : NMD},
  year={2009},
  volume={19 12},
  pages={845-8}
}
A Saudi Arabian family presented with adult onset autosomal dominant progressive external ophthalmoplegia (adPEO) complicated by late onset reversible failure of the CNS, respiratory, hepatic, and endocrine systems. Clinical findings were suggestive of mitochondrial dysfunction and multiple mitochondrial DNA deletions were demonstrated on long range and real time polymerase chain reaction assays but not on Southern blotting. The disorder is caused by a novel heterozygous PEO1 mutation… CONTINUE READING

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