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Comment
. 2023 Jun 7:14:1205862.
doi: 10.3389/fendo.2023.1205862. eCollection 2023.

Commentary: The mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients

Ivo P van de Peppel  1   2 , Serwet Demirdas  1 , Behiye Özcan  3
Affiliations
Comment

Commentary: The mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients

Ivo P van de Peppel et al. Front Endocrinol (Lausanne). .
No abstract available

Keywords: MIDD; clinical genetics; diabetes mellitus; heteroplasmy; m.3243A>G; mitochondrial disease.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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References

    1. Yang M, Xu L, Xu C, Cui Y, Jiang S, Dong J, et al. . The mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients. Front Endocrinol (2021) 12:728043. doi: 10.3389/fendo.2021.728043 - DOI - PMC - PubMed
    1. Valiente-Pallejà A, Tortajada J, Bulduk BK, Vilella E, Garrabou G, Muntané G, et al. . Comprehensive summary of mitochondrial alterations in the postmortem human brain: a systematic review. EBioMedicine (2022) 76:103815. doi: 10.1016/j.ebiom.2022.103815 - DOI - PMC - PubMed
    1. Li D, Liang C, Zhang T, Marley JL, Zou W, Lian M, et al. . Pathogenic mitochondrial DNA 3243A>G mutation: from genetics to phenotype. Front Genet (2022) 13:951185. doi: 10.3389/fgene.2022.951185 - DOI - PMC - PubMed
    1. De Laat P, Koene S, van den Heuvel LPWJ, Rodenburg RJT, Janssen MCH, Smeitink JAM. Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation. J Inherit Metab Dis (2012) 35(6):1059–69. doi: 10.1007/s10545-012-9465-2 - DOI - PMC - PubMed
    1. Grady JP, Picket SJ, Shiau Ng Y, Alston CL, Blakely EL, Hardy SA, et al. . mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. EMBO Mol Med (2018) 10:e8262. doi: 10.15252/emmm.201708262 - DOI - PMC - PubMed

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