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Article

Multilevel functional and structural defects induced by two pathogenic mitochondrial tRNA mutations.

The Biochemical journal - 1 Aug 2013

Wang Meng, Zhou Xiao-Long, Liu Ru-Juan, Fang Zhi-Peng, Zhou Mi, Eriani Gilbert, Wang En-Duo

Abstract excerpt

Point mutations in hmtRNAs (human mitochondrial tRNAs) can cause various disorders, such as CPEO (chronic progressive external ophthalmoplegia) and MM (mitochondrial myopathy). Mitochondrial tRNALeu, especially the UUR codon isoacceptor, is recognized as a hot spot for pathogenic mtDNA point mutations. Thus far, 40 mutations have been reported in hmtRNAsLeu. In the present paper, we describe the wide range of...

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PMID: 23631826
DOI: 10.1042/BJ20130294

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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