A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
about
Mitochondrial cytochrome c oxidase deficiencyLRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders.Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.Mitochondrial cytochrome c oxidase biogenesis: Recent developments.Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexesHuman diseases associated with defects in assembly of OXPHOS complexes
P2860
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P2860
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
description
2014 nî lūn-bûn
@nan
2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A truncating PET100 variant ca ...... tochrome c oxidase deficiency.
@ast
A truncating PET100 variant ca ...... tochrome c oxidase deficiency.
@en
type
label
A truncating PET100 variant ca ...... tochrome c oxidase deficiency.
@ast
A truncating PET100 variant ca ...... tochrome c oxidase deficiency.
@en
prefLabel
A truncating PET100 variant ca ...... tochrome c oxidase deficiency.
@ast
A truncating PET100 variant ca ...... tochrome c oxidase deficiency.
@en
P2093
P2860
P50
P356
P1476
A truncating PET100 variant ca ...... tochrome c oxidase deficiency.
@en
P2093
Andrew Am Morris
Garry K Brown
Jessica Ac Houghton
Langping He
Monika Oláhová
Robert N Lightowlers
Robert W Taylor
Tobias B Haack
P2860
P2888
P304
P356
10.1038/EJHG.2014.214
P577
2014-10-08T00:00:00Z
P5875
P6179
1009696390