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Benign reversible course in infants manifesting clinicopathological features of fatal mitochondrial myopathy due to m.14674 T>C mt-tRNAGlu mutation.

AuthorsT-H Chen, Y-F Tu, Y-I Goto, Y-J Jong
JournalQJM : monthly journal of the Association of Physicians (QJM) Vol. 106 Issue 10 Pg. 953-4 (Oct 2013) ISSN: 1460-2393 [Electronic] England
PMID23842486 (Publication Type: Case Reports, Journal Article)
Chemical References
  • DNA, Mitochondrial
  • RNA, Transfer, Glu
Topics
  • Biopsy
  • Cytochrome-c Oxidase Deficiency (diagnosis)
  • DNA, Mitochondrial (genetics)
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Intensive Care Units, Neonatal
  • Male
  • Mitochondrial Myopathies (diagnosis, genetics)
  • Mutation
  • RNA, Transfer, Glu (genetics)

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