M.3243A>G: Many faces of one single point mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00508-010-1458-2.pdf
Reference8 articles.
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2. van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA, et al. Mutation in mitochondrial tRNA (Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992;1:368–71
3. Murphy R, Turnbull DM, Walker M, Hattersley AT. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabet Med 2008;25(4):383–99
4. Guery B, Choukroun G, Noel LH, Clavel P, Rötig A, Lebon S, et al. The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation. J Am Soc Nephrol 2003;14:2099–108
5. Chinnery PF, Jones S, Sviland L, Andrews RM, Parsons TJ, Turnbull DM, Bindoff LA. Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract. Gut 2001;48:121–4
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Renal manifestations of genetic mitochondrial disease;International Journal of Nephrology and Renovascular Disease;2014-01
2. Fidaxomicin for Clostridium difficile Colitis in a Peritoneal Dialysis Patient with Underlying Mitochondriopathy;Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis;2014-01
3. Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome;BMC Nephrology;2012-02-21
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