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Article

Multiple mitochondrial tRNA(Leu[UUR]) mutations associated with infantile myopathy.

Molecular and cellular biochemistry - 1 Sept 1997

Zanssen S, Molnar M, Schröder J M, Buse G

Abstract excerpt

We have identified a cluster of mitochondrial tRNA(Leu[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 tRNA(Leu[UUR]), to UGA which is the one of the tRNAs(Ser[UCN]). This is the first anticodon alteration described in this tRNA. Another...

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Identifiers

PMID: 9309693

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UCN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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