2009•Neuromuscular DisordersOpen access

The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia

Evangelia Sotiriou, Jorida Çoku, Kurenai Tanji, Huabin Huang, Michio Hirano, Salvatore DiMauro

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Key concepts: Heteroplasmy, Chronic progressive external ophthalmoplegia, Mitochondrial myopathy, Mitochondrial DNA, Mutation, Genetics, Transfer RNA, External ophthalmoplegia

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