The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome-Reference-Cited by-同舟云学术

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The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

Published:1998-12 Issue:6 Volume:63 Page:1598-1608
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Loeffen Jan,Smeitink Jan,Triepels Ralf,Smeets Roel,Schuelke Markus,Sengers Rob,Trijbels Frans,Hamel Ben,Mullaart Renier,van den Heuvel Lambert

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference62 articles.

1. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome;Adams;Ann Neurol,1997

2. Bovine-heart NADH: ubiquinone oxidoreductase is a monomer with 8 Fe-S clusters and 2 FMN groups;Albracht;Biochim Biophys Acta,1997

3. Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome): report of a case with lethal outcome;Baumgartner;Pediatr Res,1989

4. Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts with combined complex I and IV deficiencies in muscle;Bentlage;Neurology,1996

5. Clinical spectrum of mitochondrial DNA mutation at base pair 8344;Berkovic;Lancet,1991

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1. Animal Models of Mitochondrial Diseases Associated with Nuclear Gene Mutations;Acta Naturae;2024-01-17

2. Inherited myogenic abilities in muscle precursor cells defined by the mitochondrial complex I-encoding protein;Cell Death & Disease;2023-10-19

3. Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum;Annals of Neurology;2023-08-12

4. Tissue-specific differences in the assembly of mitochondrial Complex I are revealed by a novel ENU mutation in ECSIT;Cardiovascular Research;2023-07-03

5. Molecular analysis of gene variants in an Iranian family with psychomotor retardation mitochondrial disorder patient;Clinical Case Reports;2023-05

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