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Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia.

AuthorsK Sahashi, M Yoneda, K Ohno, M Tanaka, T Ibi, K Sahashi
JournalJournal of medical genetics (J Med Genet) Vol. 38 Issue 10 Pg. 703-5 (Oct 2001) ISSN: 1468-6244 [Electronic] England
PMID11594340 (Publication Type: Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • RNA, Mitochondrial
  • RNA, Transfer, Tyr
  • RNA
  • Oxygen
Topics
  • Adult
  • Base Sequence
  • Cell Survival
  • Cells, Cultured
  • DNA Mutational Analysis
  • Electron Transport (genetics)
  • Female
  • Fibroblasts
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Mitochondria, Muscle (genetics, metabolism, pathology)
  • Muscles (metabolism, pathology)
  • Mutation (genetics)
  • Nucleic Acid Conformation
  • Ophthalmoplegia, Chronic Progressive External (genetics, metabolism, pathology, physiopathology)
  • Oxygen (metabolism)
  • Oxygen Consumption (genetics)
  • Phenotype
  • RNA (genetics)
  • RNA, Mitochondrial
  • RNA, Transfer, Tyr (genetics)

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