References
Lederer SR, Klopstock T, Schiffl H. MELAS: a mitochondrial disorder in an adult patient with a renal transplant. Wien Klin Wochenschr 2010;122(11–12):363–5
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
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
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
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
Garcia-Velasco A, Gomez-Escalonilla C, Guerra-Vales JM, Cabello A, Campos Y, Arenas J. Intestinal pseudo-obstruction and urinary retention: cardinal features of a mitochondrial DNA-related disease. J Intern Med 2003;253:381–5
Guillausseau PJ, Massin P, Dubois-LaForgue D, Timsit J, Virally M, Gin H, et al. Maternally inherited diabetes and deafness: a multicenter study. Ann Intern Med 2001;134:721–7
Guery B, Choukroun G, Noel LH, Clavel P, Roetig 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
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Windpessl, M., Wallner, M., Lederer, S. et al. M.3243A>G: Many faces of one single point mutation. Wien Klin Wochenschr 122, 601–602 (2010). https://doi.org/10.1007/s00508-010-1458-2
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DOI: https://doi.org/10.1007/s00508-010-1458-2