A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

Item
http://www.wikidata.org/entity/Q28246979
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).Clinical mitochondrial genetics.The neuro-ophthalmology of mitochondrial diseaseRetinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.Transfer RNA detection by small RNA deep sequencing and disease association with myelodysplastic syndromes.MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneityEpilepsy in adults with mitochondrial disease: A cohort study.In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.The role of reactive species in epileptogenesis and influence of antiepileptic drug therapy on oxidative stressDefective 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.
P2860

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

Item
http://www.wikidata.org/entity/Q28246979
description
1993 nî lūn-bûn
@nan
1993 թուականին հրատարակուած գիտական յօդուած
@hyw
1993 թվականին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
A MERRF/MELAS overlap syndrome ...... tochondrial DNA tRNA(Lys) gene
@ast
A MERRF/MELAS overlap syndrome ...... tochondrial DNA tRNA(Lys) gene
@en
A MERRF/MELAS overlap syndrome ...... tochondrial DNA tRNA(Lys) gene
@nl
type
label
A MERRF/MELAS overlap syndrome ...... tochondrial DNA tRNA(Lys) gene
@ast
A MERRF/MELAS overlap syndrome ...... tochondrial DNA tRNA(Lys) gene
@en
A MERRF/MELAS overlap syndrome ...... tochondrial DNA tRNA(Lys) gene
@nl
prefLabel
A MERRF/MELAS overlap syndrome ...... tochondrial DNA tRNA(Lys) gene
@ast
A MERRF/MELAS overlap syndrome ...... tochondrial DNA tRNA(Lys) gene
@en
A MERRF/MELAS overlap syndrome ...... tochondrial DNA tRNA(Lys) gene
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
A MERRF/MELAS overlap syndrome ...... tochondrial DNA tRNA(Lys) gene
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921