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Comment
. 2020 Aug;22(8):1418-1419.
doi: 10.1038/s41436-020-0804-7. Epub 2020 May 18.

Comment on the criteria for interpretation of mitochondrial tRNA variants

Renkui Bai  1 , Amanda Balog  2 , Patricia Kiesler  2 , Dolores Arjona  2 , Hong Cui  2
Affiliations
Free article
Comment

Comment on the criteria for interpretation of mitochondrial tRNA variants

Renkui Bai et al. Genet Med. 2020 Aug.
Free article
No abstract available

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Comment in

  • Response to Bai et al.
    Wong LC, Chen T, Schmitt ES, Wang J, Zhang S, Landsverk M, Li F, Tang S, Wang Y, Zhang VW, Craigen WJ. Wong LC, et al. Genet Med. 2020 Aug;22(8):1420-1421. doi: 10.1038/s41436-020-0805-6. Epub 2020 May 18. Genet Med. 2020. PMID: 32418988 No abstract available.

Comment on

References

    1. Richards S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–424. - DOI
    1. Sacconi S, et al. A functionally dominant mitochondrial DNA mutation. Hum Mol Genet. 2008;17:1814–1820. - DOI
    1. Rossignol R, et al. Mitochondrial threshold effects. Biochem J. 2003;370:751–762. - DOI
    1. Altmann J, et al. Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry. J Neurol. 2016;263:961–972. - DOI
    1. Hanna MG, et al. Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. Am J Hum Genet. 1995;56:1026–1033. - PubMed - PMC

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