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• W2017113783 abstract "The nucleotide change A to G at position m.3243 in the mitochondrial tRNA leucine (UUR) gene (MT-TL1) is the most common point mutation reported in association with the Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes (MELAS) syndrome. Since the original description of this disorder, factors including random mitochondrial segregation and consequent variable tissue heteroplasmy are recognised to contribute to a much broader phenotypic spectrum associated with the MT-TL1 m.3243A>G mutation, often rendering the process of making a diagnosis complex. Reliance on clinicians' referral patterns means that for most molecular diagnostic laboratories, their positive identification rates for the common pathogenic mitochondrial DNA (mtDNA) mutations, including MT-TL1 m.3243A>G, is often relatively low compared to those reported in clinically targeted research studies. Herein, we report our results of consecutive prospective screening of 745 patients with a clinically suspected mitochondrial syndrome encompassing features associated with MT-TL1 m.3243A>G mutation." @default.
• W2017113783 created "2016-06-24" @default.
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• W2017113783 date "2014-07-01" @default.
• W2017113783 modified "2023-10-14" @default.
• W2017113783 title "Detection rates and phenotypic spectrum of m.3243A>G in the MT-TL1 gene: A molecular diagnostic laboratory perspective" @default.
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• W2017113783 doi "https://doi.org/10.1016/j.mito.2014.05.005" @default.
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