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References

These sources were used to develop the Genetics Home Reference gene summary on the MT-TL1 gene.

Betts J, Jaros E, Perry RH, Schaefer AM, Taylor RW, Abdel-All Z, Lightowlers RN, Turnbull DM. Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropathol Appl Neurobiol. 2006 Aug;32(4):359-73. PubMed citation
Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain. 1997 Oct;120 ( Pt 10):1713-21. PubMed citation
Deschauer M, Müller T, Wieser T, Schulte-Mattler W, Kornhuber M, Zierz S. Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. Arch Neurol. 2001 Nov;58(11):1885-8. PubMed citation
Entrez Gene
Kirino Y, Goto Y, Campos Y, Arenas J, Suzuki T. Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease. Proc Natl Acad Sci U S A. 2005 May 17;102(20):7127-32. Epub 2005 May 3. PubMed citation
Koga Y, Akita Y, Takane N, Sato Y, Kato H. Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene. Arch Dis Child. 2000 May;82(5):407-11. PubMed citation
Maassen JA, 'T Hart LM, Van Essen E, Heine RJ, Nijpels G, Jahangir Tafrechi RS, Raap AK, Janssen GM, Lemkes HH. Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes. 2004 Feb;53 Suppl 1:S103-9. Review. PubMed citation
Maassen JA, Jahangir Tafrechi RS, Janssen GM, Raap AK, Lemkes HH, 't Hart LM. New insights in the molecular pathogenesis of the maternally inherited diabetes and deafness syndrome. Endocrinol Metab Clin North Am. 2006 Jun;35(2):385-96, x-xi. Review. PubMed citation
Maassen JA, Janssen GM, 't Hart LM. Molecular mechanisms of mitochondrial diabetes (MIDD). Ann Med. 2005;37(3):213-21. Review. PubMed citation
Maassen JA. Mitochondrial diabetes: pathophysiology, clinical presentation, and genetic analysis. Am J Med Genet. 2002 May 30;115(1):66-70. Review. PubMed citation
Moraes CT, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N, Lovelace RE, Rowland LP, Schon EA, DiMauro S. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? J Clin Invest. 1993 Dec;92(6):2906-15. PubMed citation
Moraes CT, Ciacci F, Silvestri G, Shanske S, Sciacco M, Hirano M, Schon EA, Bonilla E, DiMauro S. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromuscul Disord. 1993 Jan;3(1):43-50. PubMed citation
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 Apr;25(4):383-99. doi: 10.1111/j.1464-5491.2008.02359.x. Epub 2008 Feb 18. Review. PubMed citation
OMIM: TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1
Opdal SH, Rognum TO, Torgersen H, Vege A. Mitochondrial DNA point mutations detected in four cases of sudden infant death syndrome. Acta Paediatr. 1999 Sep;88(9):957-60. PubMed citation
Thambisetty M, Newman NJ. Diagnosis and management of MELAS. Expert Rev Mol Diagn. 2004 Sep;4(5):631-44. Review. PubMed citation
van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA, van de Kamp JJ, Maassen JA. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet. 1992 Aug;1(5):368-71. PubMed citation
Yu Wai Man CY, Chinnery PF, Griffiths PG. Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders. Neuromuscul Disord. 2005 Jan;15(1):17-23. Epub 2004 Nov 26. Review. PubMed citation