Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

Item
http://www.wikidata.org/entity/Q34402933
Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation--a 5 year follow up.Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyMitochondrial genome analysis of primary open angle glaucoma patientsExercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation.Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.A MELAS syndrome family harboring two mutations in mitochondrial genomeMitochondrial disease and epilepsy.Mitochondrial epilepsy in pediatric and adult patients.Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies.A missense MT-ND5 mutation in differentiated Parkinson Disease cytoplasmic hybrid induces ROS-dependent DNA Damage Response amplified by DROSHA.The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype.Mitochondrial myopathy with autophagic vacuoles in patients with the m.8344A>G mutation.MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.Movement disorders in mitochondrial disease.MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.Mitochondrial genome instability in colorectal adenoma and adenocarcinoma.
P2860

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

Item
http://www.wikidata.org/entity/Q34402933
description
2005 nî lūn-bûn
@nan
2005 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մարտին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Novel mitochondrial DNA ND5 mu ...... l features of MELAS and MERRF.
@ast
Novel mitochondrial DNA ND5 mu ...... l features of MELAS and MERRF.
@en
Novel mitochondrial DNA ND5 mu ...... l features of MELAS and MERRF.
@nl
type
label
Novel mitochondrial DNA ND5 mu ...... l features of MELAS and MERRF.
@ast
Novel mitochondrial DNA ND5 mu ...... l features of MELAS and MERRF.
@en
Novel mitochondrial DNA ND5 mu ...... l features of MELAS and MERRF.
@nl
prefLabel
Novel mitochondrial DNA ND5 mu ...... l features of MELAS and MERRF.
@ast
Novel mitochondrial DNA ND5 mu ...... l features of MELAS and MERRF.
@en
Novel mitochondrial DNA ND5 mu ...... l features of MELAS and MERRF.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Novel mitochondrial DNA ND5 mu ...... l features of MELAS and MERRF.
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P921