(Q28180532)

English

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome

scientific article (publication date: May 2003)

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scholarly article

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Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome (English)

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Dominique Chrétien

4

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12

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11

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1

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10

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Alice Goldenberg

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author name string

Julie Steffann

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Sophie Lebon

3

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Noman Kadhom

5

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Pascale de Lonlay

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Yves Dumez

8

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Marc Dommergues

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language of work or name

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publication date

May 2003

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112

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563-6

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5-6

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https://scigraph.springernature.com/pub.10.1007/s00439-002-0884-2

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A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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Human NADH:ubiquinone oxidoreductase

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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Nomenclature for the description of human sequence variations.

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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Biochemical and molecular investigations in respiratory chain deficiencies

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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The HUGO Gene Nomenclature Committee (HGNC).

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins

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https://pubmed.ncbi.nlm.nih.gov/12616398

12 December 2020

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Identifiers

10.1007/S00439-002-0884-2

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