A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
about
Mitochondrial cytochrome c oxidase deficiencyCombined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseDating rare mutations from small samples with dense marker data.The genetics of Leigh syndrome and its implications for clinical practice and risk managementA truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesisThe genetics and pathology of mitochondrial disease.Leigh syndrome: One disorder, more than 75 monogenic causes.Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects.Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.Metabolic flexibility of mitochondrial respiratory chain disorders predicted by computer modelling.Mitochondrial cytochrome c oxidase biogenesis: Recent developments.Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexesHuman diseases associated with defects in assembly of OXPHOS complexes
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A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
@tr
scientific article published on 23 January 2014
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
A founder mutation in PET100 c ...... dividuals with Leigh syndrome.
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A founder mutation in PET100 c ...... dividuals with Leigh syndrome.
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type
label
A founder mutation in PET100 c ...... dividuals with Leigh syndrome.
@en
A founder mutation in PET100 c ...... dividuals with Leigh syndrome.
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prefLabel
A founder mutation in PET100 c ...... dividuals with Leigh syndrome.
@en
A founder mutation in PET100 c ...... dividuals with Leigh syndrome.
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P2093
P2860
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P1476
A founder mutation in PET100 c ...... dividuals with Leigh syndrome.
@en
P2093
Ayan Dasvarma
Bridget Wilcken
David Mowat
Garry K Brown
Heidi L Peters
Justine E Marum
Katherine R Smith
Luke C Gandolfo
Melanie Bahlo
Peter G Procopis
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P304
P356
10.1016/J.AJHG.2013.12.015
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P577
2014-01-23T00:00:00Z