Progressive external ophthalmoplegia associated with novel MT-TN mutations

Kittichate Visuttijai1, Carola Hedberg-Oldfors1, Ulrika Lindgren1

  • 1Department of Laboratory Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

Summary

Two novel mutations in the mitochondrial tRNAAsn (MT-TN) gene are linked to progressive external ophthalmoplegia (PEO) and mitochondrial myopathy. These findings highlight MT-TN as a key genetic area for PEO development.

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