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References

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

Blakely EL, Poulton J, Pike M, Wojnarowska F, Turnbull DM, McFarland R, Taylor RW. Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation. J Neurol Sci. 2004 Oct 15;225(1-2):99-103. PubMed citation
Chalmers RM, Lamont PJ, Nelson I, Ellison DW, Thomas NH, Harding AE, Hammans SR. A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome. Neurology. 1997 Aug;49(2):589-92. PubMed citation
de Coo IF, Sistermans EA, de Wijs IJ, Catsman-Berrevoets C, Busch HF, Scholte HR, de Klerk JB, van Oost BA, Smeets HJ. A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes. Neurology. 1998 Jan;50(1):293-5. PubMed citation
Entrez Gene
Menotti F, Brega A, Diegoli M, Grasso M, Modena MG, Arbustini E. A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS. Ital Heart J. 2004 Jun;5(6):460-5. PubMed citation
Taylor RW, Chinnery PF, Haldane F, Morris AA, Bindoff LA, Wilson J, Turnbull DM. MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA. Ann Neurol. 1996 Sep;40(3):459-62. PubMed citation
Tiranti V, D'Agruma L, Pareyson D, Mora M, Carrara F, Zelante L, Gasparini P, Zeviani M. A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation. Ann Neurol. 1998 Jan;43(1):98-101. PubMed citation

Reviewed: November 2006

Published: May 20, 2013