Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation-Reference-Cited by-同舟云学术

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Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation

Published:2018-12-04 Issue:2 Volume:7 Page:e00523
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

de Laat Paul¹^ORCID,Rodenburg Richard J.¹,Smeitink Jan A. M.¹,Janssen Mirian C. H.¹²

Affiliation:

1. Department of Pediatrics, Radboudumc Amalia Childrens Hospital; Radboud Center for Mitochondrial Medicine; Nijmegen The Netherlands

2. Department of Internal Medicine, Radboudumc; Radboud Center for Mitochondrial Medicine; Nijmegen The Netherlands

Funder

ZonMW Priority Medicines

Stichting Energy4All

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.523/fullpdf

Reference24 articles.

1. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes;Chinnery;Brain,1997

2. The epidemiology of pathogenic mitochondrial DNA mutations;Chinnery;Annals of Neurology,2000

3. The inheritance of pathogenic mitochondrial DNA mutations;Cree;Biochimica Et Biophysica Acta,2009

4. Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation;Laat;Journal of Inherited Metabolic Disease,2012

5. Mitochondrial retinal dystrophy associated with the m.3243A>G mutation;Laat;Ophthalmology,2013

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1. Analysis of Mutational Burden of Mitochondrial Genome in Cells of Different Human Organs and Tissues;Current Medicinal Chemistry;2024-08-23

2. The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity;Journal of Neuromuscular Diseases;2024-01-02

3. A retrospective cohort study evaluating pregnancy outcomes in women with MIDD;Acta Diabetologica;2023-10-31

4. Enfermedades mitocondriales;EMC - Pediatría;2022-06

5. Possible role of the mitochondrial genome in the pathogenesis of autosomal dominant polycystic kidney disease;Nephrology;2021-08-09

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