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mitochondrial tRNA mutation

Pathology: - mitochondrial tRNA mutations may be associated - deafness - myopathy - encephalopathy - gastrointestinal dysmotility - cardiomyopathy

Related

mitochondrial transfer RNA (mt tRNA)

General

gene mutation testing; gene mutation analysis

References

  1. Loinc
  2. Zheng J, Ji Y, Guan MX. Mitochondrial tRNA mutations associated with deafness. Mitochondrion. 2012 May;12(3):406-13. Epub 2012 Apr 16. PMID: 22538251
  3. Yarham JW, Elson JL, Blakely EL, McFarland R, Taylor RW. Mitochondrial tRNA mutations and disease. Wiley Interdiscip Rev RNA. 2010 Sep-Oct;1(2):304-24 PMID: 21935892