Modeling-based prediction tools for preimplantation genetic testing of mitochondrial DNA diseases: estimating symptomatic thresholds, risk, and chance of success-Reference-Cited by-同舟云学术

Modeling-based prediction tools for preimplantation genetic testing of mitochondrial DNA diseases: estimating symptomatic thresholds, risk, and chance of success

Published:2023-07-13 Issue:9 Volume:40 Page:2185-2196
ISSN:1058-0468
Container-title:Journal of Assisted Reproduction and Genetics
language:en
Short-container-title:J Assist Reprod Genet

Author:

Ji Dongmei^ORCID,Zhang Ning,Zou Weiwei,Zhang Zhikang,Marley Jordan Lee,Liu Zhuoli,Liang Chunmei,Shen Lingchao,Liu Yajing,Liang Dan,Su Tianhong,Du Yinan,Cao Yunxia

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Developmental Biology,Obstetrics and Gynecology,Genetics,Reproductive Medicine,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10815-023-02880-2.pdf

Reference41 articles.

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2. Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF. Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet. 2008;83(2):254–60.

3. Gal A, Balicza P, Weaver D, Naghdi S, Joseph SK, Várnai P, et al. MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans. EMBO Mol Med. 2017;9(7):967–84.

4. Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. The genetics and pathology of mitochondrial disease. J Pathol. 2017;241(2):236–50.

5. Lake NJ, Compton AG, Rahman S, Thorburn DR. Leigh syndrome: one disorder, more than 75 monogenic causes. Ann Neurol. 2016;79(2):190–203.

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