Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

Item
http://www.wikidata.org/entity/Q56687739
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stabilityMutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expressionCombined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseA Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum.A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patientMutations in TTC19: expanding the molecular, clinical and biochemical phenotype.Nuclear gene mutations as the cause of mitochondrial complex III deficiencyLYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.Metabolic flexibility of mitochondrial respiratory chain disorders predicted by computer modelling.Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders.Phenotypic variation ofTTC19-deficient mitochondrial complex III deficiency: A case report and literature reviewHuman diseases associated with defects in assembly of OXPHOS complexes
P2860

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

Item
http://www.wikidata.org/entity/Q56687739
description
im März 2013 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 28 March 2013
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в березні 2013
@uk
name
Novel TTC19 mutation in a fami ...... ons and complex III deficiency
@en
Novel TTC19 mutation in a fami ...... ons and complex III deficiency
@nl
type
label
Novel TTC19 mutation in a fami ...... ons and complex III deficiency
@en
Novel TTC19 mutation in a fami ...... ons and complex III deficiency
@nl
prefLabel
Novel TTC19 mutation in a fami ...... ons and complex III deficiency
@en
Novel TTC19 mutation in a fami ...... ons and complex III deficiency
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Novel TTC19 mutation in a fami ...... ons and complex III deficiency
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698