Response to Letter to the Editor from Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy".
作者信息
John Rebecca, Chapla Aaron, Chacko Geeta, Yoganathan Sangeetha, Thomas Maya Mary, Thomas Nihal
机构信息
Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, Tamil Nadu 632004, India.
Department of Pathology, Christian Medical College, Vellore, Tamil Nadu 632004, India.
出版信息
JCEM Case Rep. 2025 Jul 1;3(8):luaf128. doi: 10.1210/jcemcr/luaf128. eCollection 2025 Aug.
Abstract
摘要
相似文献
1
Response to Letter to the Editor from Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy".
JCEM Case Rep. 2025 Jul 1;3(8):luaf128. doi: 10.1210/jcemcr/luaf128. eCollection 2025 Aug.
2
Letter to the Editor From Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy".
JCEM Case Rep. 2025 Jul 1;3(8):luaf127. doi: 10.1210/jcemcr/luaf127. eCollection 2025 Aug.
4
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease.
N Engl J Med. 2025 Jul 31;393(5):438-449. doi: 10.1056/NEJMoa2415539. Epub 2025 Jul 16.
5
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease.
Front Pharmacol. 2025 Apr 9;16:1507493. doi: 10.3389/fphar.2025.1507493. eCollection 2025.
6
Analysis of Mutational Burden of Mitochondrial Genome in Cells of Different Human Organs and Tissues.
Curr Med Chem. 2024 Aug 23. doi: 10.2174/0109298673296881240816065357.
7
Correction of pathogenic mitochondrial DNA in patient-derived disease models using mitochondrial base editors.
PLoS Biol. 2025 Jun 24;23(6):e3003207. doi: 10.1371/journal.pbio.3003207. eCollection 2025 Jun.
8
A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation.
Turk J Pediatr. 2024 Oct 7;66(4):490-498. doi: 10.24953/turkjpediatr.2024.4702.
9
Unraveling bidirectional evolution of unstable mitochondrial DNA mutations in hepatocellular carcinoma at single-cell resolution.
Hepatology. 2025 Jul 1;82(1):59-76. doi: 10.1097/HEP.0000000000001113. Epub 2024 Oct 11.
10
Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application.
Mitochondrion. 2024 Nov;79:101954. doi: 10.1016/j.mito.2024.101954. Epub 2024 Sep 7.
本文引用的文献
1
Letter to the Editor From Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy".
JCEM Case Rep. 2025 Jul 1;3(8):luaf127. doi: 10.1210/jcemcr/luaf127. eCollection 2025 Aug.
2
Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy.
JCEM Case Rep. 2025 Mar 26;3(4):luaf020. doi: 10.1210/jcemcr/luaf020. eCollection 2025 Apr.
3
Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon).
Congenit Heart Dis. 2018 Sep;13(5):671-677. doi: 10.1111/chd.12634. Epub 2018 Aug 21.
4
Diagnostic accuracy of blood and CSF lactate in identifying children with mitochondrial diseases affecting the central nervous system.
Brain Dev. 2012 Feb;34(2):92-7. doi: 10.1016/j.braindev.2011.08.004. Epub 2011 Aug 27.
5
MELAS: a nationwide prospective cohort study of 96 patients in Japan.
Biochim Biophys Acta. 2012 May;1820(5):619-24. doi: 10.1016/j.bbagen.2011.03.015. Epub 2011 Apr 2.
6
Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease.
AJNR Am J Neuroradiol. 2003 Jan;24(1):33-41.
Zotero 插件