A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).
about
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystoniaGenetics of childhood epilepsyEvolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations.Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases.Clinical mitochondrial genetics.Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations.Is 8860 variation a rare polymorphism or associated as a secondary effect in HCM disease?Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis.In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndromeBiochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations.Decreased mitochondrial tRNALys steady-state levels and aminoacylation are associated with the pathogenic G8313A mitochondrial DNA mutation.Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant.Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.Mitochondrial genetics: principles and practice.Metabolic Dysfunction and Oxidative Stress in Epilepsy.Mitochondrial genome variability: the effect on cellular functional activity.Errors in protein synthesis increase the level of saturated fatty acids and affect the overall lipid profiles of yeast
P2860
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P2860
A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).
description
1992 nî lūn-bûn
@nan
1992 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
A new mtDNA mutation in the tR ...... and ragged-red fibers (MERRF).
@ast
A new mtDNA mutation in the tR ...... and ragged-red fibers (MERRF).
@en
type
label
A new mtDNA mutation in the tR ...... and ragged-red fibers (MERRF).
@ast
A new mtDNA mutation in the tR ...... and ragged-red fibers (MERRF).
@en
prefLabel
A new mtDNA mutation in the tR ...... and ragged-red fibers (MERRF).
@ast
A new mtDNA mutation in the tR ...... and ragged-red fibers (MERRF).
@en
P2093
P2860
P1476
A new mtDNA mutation in the tR ...... and ragged-red fibers (MERRF).
@en
P2093
P2860
P304
P407
P577
1992-12-01T00:00:00Z