A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

Item
http://www.wikidata.org/entity/Q35196878
Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystoniaA new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex IMitochondrial Transfer from Wharton's Jelly Mesenchymal Stem Cell to MERRF Cybrid Reduces Oxidative Stress and Improves Mitochondrial Bioenergetics.A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family.A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndromeDistribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.LoFreq: a sequence-quality aware, ultra-sensitive variant caller for uncovering cell-population heterogeneity from high-throughput sequencing datasets.In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.Impaired ROS Scavenging System in Human Induced Pluripotent Stem Cells Generated from Patients with MERRF SyndromeDefective 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.The sequence of human mtDNA: the question of errors versus polymorphisms.Intercellular mitochondria trafficking highlighting the dual role of mesenchymal stem cells as both sensors and rescuers of tissue injury.
P2860

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

Item
http://www.wikidata.org/entity/Q35196878
description
1991 nî lūn-bûn
@nan
1991 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
A tRNA(Lys) mutation in the mt ...... ed-red fiber (MERRF) syndrome.
@ast
A tRNA(Lys) mutation in the mt ...... ed-red fiber (MERRF) syndrome.
@en
type
label
A tRNA(Lys) mutation in the mt ...... ed-red fiber (MERRF) syndrome.
@ast
A tRNA(Lys) mutation in the mt ...... ed-red fiber (MERRF) syndrome.
@en
prefLabel
A tRNA(Lys) mutation in the mt ...... ed-red fiber (MERRF) syndrome.
@ast
A tRNA(Lys) mutation in the mt ...... ed-red fiber (MERRF) syndrome.
@en
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
A tRNA(Lys) mutation in the mt ...... ed-red fiber (MERRF) syndrome.
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932