相似文献
1
Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.
Neurology. 2009 Feb 10;72(6):568-9. doi: 10.1212/01.wnl.0000342121.91336.4d.
2
Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.
Ophthalmology. 2013 Dec;120(12):2684-2696. doi: 10.1016/j.ophtha.2013.05.013. Epub 2013 Jun 24.
3
The non-syndromic clinical spectrums of mtDNA 3243A>G mutation.
Neurosciences (Riyadh). 2021 Apr;26(2):128-133. doi: 10.17712/nsj.2021.2.20200145.
4
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.
EMBO Mol Med. 2018 Jun;10(6). doi: 10.15252/emmm.201708262.
5
Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation.
Mol Genet Genomic Med. 2019 Feb;7(2):e00523. doi: 10.1002/mgg3.523. Epub 2018 Dec 4.
6
ATF5, a putative therapeutic target for the mitochondrial DNA 3243A > G mutation-related disease.
Cell Death Dis. 2021 Jul 14;12(7):701. doi: 10.1038/s41419-021-03993-1.
7
Heteroplasmy and phenotype spectrum of the mitochondrial tRNA gene m.3243A>G mutation in seven Han Chinese families.
J Neurol Sci. 2020 Jan 15;408:116562. doi: 10.1016/j.jns.2019.116562. Epub 2019 Nov 6.
8
Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes.
Mol Diagn Ther. 2006;10(6):381-9. doi: 10.1007/BF03256215.
9
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.
Ann Neurol. 2016 Nov;80(5):686-692. doi: 10.1002/ana.24736. Epub 2016 Sep 19.
10
De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome.
J Diabetes Res. 2019 Apr 4;2019:5184647. doi: 10.1155/2019/5184647. eCollection 2019.
引用本文的文献
1
New Insights into Mitochondria in Health and Diseases.
Int J Mol Sci. 2024 Sep 16;25(18):9975. doi: 10.3390/ijms25189975.
2
Monogenic Kidney Diseases in Kidney Transplantation.
Kidney Int Rep. 2023 Dec 13;9(3):549-568. doi: 10.1016/j.ekir.2023.12.003. eCollection 2024 Mar.
3
Late-onset mitochondrial encephalopathy with lactic acidosis and stroke-like episodes and the role of serial imaging.
BMJ Case Rep. 2024 Feb 27;17(2):e259102. doi: 10.1136/bcr-2023-259102.
4
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity.
J Neuromuscul Dis. 2024;11(1):179-189. doi: 10.3233/JND-230166.
5
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case report from Nepal.
Ann Med Surg (Lond). 2023 May 3;85(6):3026-3030. doi: 10.1097/MS9.0000000000000712. eCollection 2023 Jun.
6
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.
Orphanet J Rare Dis. 2023 Mar 2;18(1):43. doi: 10.1186/s13023-023-02632-6.
7
Insulin Resistance in Mitochondrial Diabetes.
Biomolecules. 2023 Jan 7;13(1):126. doi: 10.3390/biom13010126.
8
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).
Mol Genet Metab. 2022 Jun;136(2):125-131. doi: 10.1016/j.ymgme.2022.05.001. Epub 2022 May 13.
9
Endocrine Manifestations and New Developments in Mitochondrial Disease.
Endocr Rev. 2022 May 12;43(3):583-609. doi: 10.1210/endrev/bnab036.
10
Serum Neurofilament Light Chain: A Marker of Nervous System Damage in Myopathies.
Front Neurosci. 2021 Dec 17;15:791670. doi: 10.3389/fnins.2021.791670. eCollection 2021.
本文引用的文献
1
Prevalence of mitochondrial DNA disease in adults.
Ann Neurol. 2008 Jan;63(1):35-9. doi: 10.1002/ana.21217.
2
Mitochondrial disease in adults: a scale to monitor progression and treatment.
Neurology. 2006 Jun 27;66(12):1932-4. doi: 10.1212/01.wnl.0000219759.72195.41.
3
Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.
Am J Med Genet A. 2004 Oct 1;130A(2):134-7. doi: 10.1002/ajmg.a.30220.
4
Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.
Eur J Hum Genet. 2004 Sep;12(9):778-81. doi: 10.1038/sj.ejhg.5201216.
5
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
Am J Hum Genet. 2001 Jan;68(1):238-40. doi: 10.1086/316930. Epub 2000 Nov 20.
6
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.
Brain. 1997 Oct;120 ( Pt 10):1713-21. doi: 10.1093/brain/120.10.1713.
7
Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation.
Neurology. 1993 Aug;43(8):1586-90. doi: 10.1212/wnl.43.8.1586.
Zotero 插件