Abstract
We have identified a cluster of mitochondrial tRNALeu[UUR], mutations in a severe case of infantile myopathy. There were A to G transitions found at mtDNA positions 3259, 3261, 3266 and 3268. These point mutations change the anticodon arm and the anticodon UAA, normally found in tRNALeu[UUR], to UGA which is the one of the tRNAsSer[UCN]. This is the first anticodon alteration described in this tRNA. Another swap straight to the anticodon of tRNAPro alone was recently described in a less severe case [1]. Until now infantile myopathies have not been attributed to defined mtDNA alterations. This study reports for the first time mtDNA point mutations causing this early onset of a mitochondrial disorder. The apparent homoplasmy of these mutations and especially the location in the anticodon must be considered lethal, if the child would not have been respirated for 5 years from its birth. (Mol Cell Biochem 174: 231–236, 1997)
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Zanssen, S., Molnar, M., Schröder, J.M., Buse, G. (1997). Multiple mitochondrial tRNALeu[UUR] mutations associated with infantile myopathy. In: Gellerich, F.N., Zierz, S. (eds) Detection of Mitochondrial Diseases. Developments in Molecular and Cellular Biochemistry, vol 21. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-6111-8_36
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DOI: https://doi.org/10.1007/978-1-4615-6111-8_36
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