| A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome. | A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome.
Štufková H, Kolářová H, Lokvencová K, Honzík T, Zeman J, Hansíková H, Tesařová M., Free PMC Article | 08/6/2022 |
| Study further broadens the clinical spectrum of the m.8344A>G mutation, document the large clinical variability between carriers of the same mutation, even within families and indicate an overlap of the phenotype with other mitochondrial DNA-associated syndromes | Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.
Altmann J, Büchner B, Nadaj-Pakleza A, Schäfer J, Jackson S, Lehmann D, Deschauer M, Kopajtich R, Lautenschläger R, Kuhn KA, Karle K, Schöls L, Schulz JB, Weis J, Prokisch H, Kornblum C, Claeys KG, Klopstock T. | 04/8/2017 |
| provides evidence toward the pathogenicity of the m.8348A>G mutation and suggest that m.5628T>C is probably a neutral polymorphism. | The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia.
Gamba J, Kiyomoto BH, de Oliveira AS, Gabbai AA, Schmidt B, Tengan CH. | 01/26/2013 |
| study of a Greek family that includes seven symptomatic cases of 8344 A>G lys mitochondrial tRNA mutation; clustering of unusual manifestations in this kindred suggests that much of the phenotypic variability of 8344 A>G is determined by mitochondrially encoded modifiers in cis | Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cis.
Kazakos K, Kotsa K, Yavropoulou M, Dionyssopoulos A, Grabs R, Yovos J, Polychronakos C. | 11/24/2012 |
| The results unambiguously demonstrate that modifications pre-structure the anticodon as a key prerequisite for efficient and accurate recognition of cognate and wobble codons by transfer RNA lysine. | Human tRNA(Lys3)(UUU) is pre-structured by natural modifications for cognate and wobble codon binding through keto-enol tautomerism.
Vendeix FA, Murphy FV 4th, Cantara WA, Leszczyńska G, Gustilo EM, Sproat B, Malkiewicz A, Agris PF., Free PMC Article | 04/14/2012 |
| This is the first reported case of a double-point mutation in mtDNA, tRNA(Lys) and tRNA(Leu) genes, both of which were heteroplasmic and pathogenic for MERRF/MELAS overlap syndrome. | MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
Nakamura M, Yabe I, Sudo A, Hosoki K, Yaguchi H, Saitoh S, Sasaki H. | 01/29/2011 |
| we describe the clinical and molecular features of a new large multigenerational family with the G8363A mtDNA tRNA(Lys) gene mutation and we review the literature of cases with this mutation | Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.
Virgilio R, Ronchi D, Bordoni A, Fassone E, Bonato S, Donadoni C, Torgano G, Moggio M, Corti S, Bresolin N, Comi GP. | 01/21/2010 |
| We describe a typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders. | The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders.
Molnar MJ, Perenyi J, Siska E, Nemeth G, Nagy Z. | 01/21/2010 |
| We describe a A8344G tRNALys mutation associated with recurrent brain stem stroke-like episodes in a 17 year-old girl. | A8344G tRNALys mutation associated with recurrent brain stem stroke-like episodes.
Zaganas I, Latsoudis H, Papadaki E, Vorgia P, Spilioti M, Plaitakis A. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (4) articlesMtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
Bhardwaj A, Mukerji M, Sharma S, Paul J, Gokhale CS, Srivastava AK, Tiwari S. Mitochondrial tRNALeu/Lys and ATPase 6/8 gene variations in spinocerebellar ataxias.
Safaei S, Houshmand M, Banoei MM, Panahi MS, Nafisi S, Parivar K, Rostami M, Shariati P. Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss.
Bae JW, Lee KY, Choi SY, Lee SH, Park HJ, Kim UK. Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients.
Ahari SE, Houshmand M, Panahi MS, Kasraie S, Moin M, Bahar MA. | 03/13/2008 |
| Observational study of genetic testing. (HuGE Navigator) | Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction.
Fan H, Civalier C, Booker JK, Gulley ML, Prior TW, Farber RA., Free PMC Article | 03/13/2008 |
| Observational study of genotype prevalence. (HuGE Navigator) | See all PubMed (2) articles | 03/13/2008 |
| A 8328G>A tRNALys mutation was detected in a 59 year old man with myopathy and exercise intolerance. | Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation.
Blakely EL, Swalwell H, Petty RK, McFarland R, Turnbull DM, Taylor RW. | 01/21/2010 |
| a family carrying the classic MTTK mutation with a variable degree of heteroplasmy, presenting in childhood as isolated recurrent muscle pain as the first symptom of the disease | Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation.
van de Glind G, de Vries M, Rodenburg R, Hol F, Smeitink J, Morava E. | 01/21/2010 |
| We identified a novel heteroplasmic mutation (8300T > C) in the tRNAlys gene (MTTK) from a patient with unexplained exercise intolerance. | Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlys.
Gambello MJ, Bai RK, Chen TJ, Dimachkie M, Wong LJ. | 01/21/2010 |