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References

These sources were used to develop the Genetics Home Reference gene summary on the MT-TE gene.

Entrez Gene
Horvath R, Kemp JP, Tuppen HA, Hudson G, Oldfors A, Marie SK, Moslemi AR, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Coku J, Günther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Hirano M, Lochmüller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain. 2009 Nov;132(Pt 11):3165-74. doi: 10.1093/brain/awp221. Epub 2009 Aug 31. PubMed citation
Mezghani N, Mkaouar-Rebai E, Mnif M, Charfi N, Rekik N, Youssef S, Abid M, Fakhfakh F. The heteroplasmic m.14709T>C mutation in the tRNA(Glu) gene in two Tunisian families with mitochondrial diabetes. J Diabetes Complications. 2010 Jul-Aug;24(4):270-7. doi: 10.1016/j.jdiacomp.2009.11.002. Epub 2010 Jan 4. PubMed citation
Mimaki M, Hatakeyama H, Komaki H, Yokoyama M, Arai H, Kirino Y, Suzuki T, Nishino I, Nonaka I, Goto Y. Reversible infantile respiratory chain deficiency: a clinical and molecular study. Ann Neurol. 2010 Dec;68(6):845-54. doi: 10.1002/ana.22111. PubMed citation
Rigoli L, Prisco F, Caruso RA, Iafusco D, Ursomanno G, Zuccarello D, Ingenito N, Rigoli M, Barberi I. Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family. Diabet Med. 2001 Apr;18(4):334-6. PubMed citation
Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F, Poulton J. Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. J Med Genet. 2011 Oct;48(10):660-8. doi: 10.1136/jmg.2011.089995. PubMed citation
Vialettes BH, Paquis-Flucklinger V, Pelissier JF, Bendahan D, Narbonne H, Silvestre-Aillaud P, Montfort MF, Righini-Chossegros M, Pouget J, Cozzone PJ, Desnuelle C. Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report. Diabetes Care. 1997 Nov;20(11):1731-7. PubMed citation


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