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Chapter 5 - Clinical Genetics of Mitochondrial Diseases

from Section 1 - Introduction to Mitochondrial Medicine

Published online by Cambridge University Press:  28 April 2018

By
Marni J. Falk  and
Colleen Clarke Muraresku
Edited by
Patrick F. Chinnery  and
Michael J. Keogh
Patrick F. Chinnery
Affiliation:
University of Cambridge
Michael J. Keogh
Affiliation:
University of Newcastle upon Tyne
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Clinical Mitochondrial Medicine , pp. 52 - 58
Publisher: Cambridge University Press
Print publication year: 2018

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References

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Hellebrekers, DMEI, Wolfe, R, Hendrickx, ATM, et al. PGD and heteroplasmic mitochondrial DNA point mutations: A systematic review estimating the chance of healthy offspring. Hum Reprod Update 2012; 18(4):341–349.Google Scholar
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Mitalipov, S, Amato, P, Parry, S and Falk, M. Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases. Cell Reports 2014; 7:935–937.Google Scholar
Bredenoord, AL, Pennings, G, Smeets, HJ, et al. Dealing with uncertainties: Ethics of prenatal diagnosis and preimplantation genetic diagnosis to prevent mitochondrial disorders. Human Reproduction Update 2008; 14:83–94.Google Scholar
Bredenoord, A, Dondorp, W, Pennings, G, et al. Preimplantation genetic diagnosis for mitochondrial DNA disorders: Ethical guidance for clinical practice. European Journal of Human Genetics 2009; 17:1550–1559.CrossRefGoogle ScholarPubMed
Sallevelt, SCEH, Dreesen, JCFM, Drüsedau, M, et al. Preimplantation genetic diagnosis in mitochondrial DNA disorders: Challenge and success. J Med Genet 2013; 50 (1):125–132.CrossRefGoogle ScholarPubMed
Buyx, AM, Strech, D and Schmidt, H. Ethical issues raised by direct-to-consumer personal genome analysis and whole body scans: Discussion and contextualisation of a report by the Nuffield Council on Bioethics. Z Evid Fortbild Qual Gesundhwes 2012; 106(1):29–39.Google Scholar
Liao, GJ, Gronowski, AM and Zhao, Z. Non-invasive prenatal testing using cell-free fetal DNA in maternal circulation. Clin Chim Acta 2014; 428:44–50.CrossRefGoogle ScholarPubMed
Nesbitt, V, Alston, CL, Blakely, EL, et al. A national perspective on prenatal testing for mitochondrial disease. European Journal of Human Genetics 2014; 22:1255–1259.CrossRefGoogle ScholarPubMed

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