Genes > MT-TK >

References

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

Berkovic SF, Shoubridge EA, Andermann F, Andermann E, Carpenter S, Karpati G. Clinical spectrum of mitochondrial DNA mutation at base pair 8344. Lancet. 1991 Aug 17;338(8764):457. PubMed citation
Entrez Gene
Finsterer J, Harbo HF, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Gasser T; European Federation of Neurological Sciences. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol. 2009 Dec;16(12):1255-64. PubMed citation
Kameoka K, Isotani H, Tanaka K, Azukari K, Fujimura Y, Shiota Y, Sasaki E, Majima M, Furukawa K, Haginomori S, Kitaoka H, Ohsawa N. Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes. Biochem Biophys Res Commun. 1998 Apr 17;245(2):523-7. PubMed citation
Kameoka K, Isotani H, Tanaka K, Kitaoka H, Ohsawa N. Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNA(Lys). Diabetes Care. 1998 Nov;21(11):2034-5. PubMed citation
OMIM: TRANSFER RNA, MITOCHONDRIAL, LYSINE
Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol. 1996 Mar;39(3):343-51. PubMed citation
Sano M, Ozawa M, Shiota S, Momose Y, Uchigata M, Goto Y. The T-C(8356) mitochondrial DNA mutation in a Japanese family. J Neurol. 1996 Jun;243(6):441-4. PubMed citation
Santorelli FM, Mak SC, El-Schahawi M, Casali C, Shanske S, Baram TZ, Madrid RE, DiMauro S. Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). Am J Hum Genet. 1996 May;58(5):933-9. PubMed citation
Serra G, Piccinnu R, Tondi M, Muntoni F, Zeviani M, Mastropaolo C. Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap. Brain Dev. 1996 May-Jun;18(3):185-91. PubMed citation
Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, Graf WD, Sumi M, DiMauro S. Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology. 1993 Jun;43(6):1200-6. PubMed citation
Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Eur J Hum Genet. 1993;1(1):80-7. Erratum in: Eur J Hum Genet 1993;1(2):124. PubMed citation


		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources