Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin (Q28301883)

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31 October 2019

title

Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9003864%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

main subject

mitochondrial myopathy

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31 October 2019

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31 October 2019

R F Ogle

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31 October 2019

E Fagan

1 reference

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31 October 2019

R B Blok

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9003864%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

D M Kirby

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31 October 2019

K L Seller

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31 October 2019

H H Dahl

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31 October 2019

language of work or name

English

0 references

publication date

1 January 1997

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The Journal of Pediatrics

31 October 2019

published in

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31 October 2019

volume

130

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31 October 2019

issue

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31 October 2019

page(s)

138-145

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The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains

31 October 2019

cites work

1 reference

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Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy

7 January 2021

1 reference

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A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity

7 January 2021

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Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain

7 January 2021

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Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease

7 January 2021

1 reference

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Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies

7 January 2021

1 reference

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Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations

7 January 2021

1 reference

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Leber's hereditary optic neuropathy and complex I deficiency in muscle

7 January 2021

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Genetic disease: an overview of current therapy

7 January 2021

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NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin

7 January 2021

1 reference

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Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation

7 January 2021

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Benign mitochondrial myopathy with deficiency of NADH-CoQ reductase and cytochrome c oxidase

7 January 2021

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A mitochondrial myopathy in an infant with lactic acidosis.

7 January 2021

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Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine

7 January 2021

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Treatment of complex I deficiency with riboflavin

7 January 2021

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Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis

7 January 2021

1 reference

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Riboflavin-responsive complex I deficiency

7 January 2021

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Leigh syndrome: clinical features and biochemical and DNA abnormalities.

7 January 2021

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Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13

7 January 2021

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A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion

7 January 2021

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cDNA-derived amino acid sequence of the NADH-binding 51-kDa subunit of the bovine respiratory NADH dehydrogenase reveals striking similarities to a bacterial NAD(+)-reducing hydrogenase

7 January 2021

1 reference

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A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy

7 January 2021

1 reference

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Mitochondrial NADH:ubiquinone oxidoreductase (complex I): proximity of the subunits of the flavoprotein and the iron-sulfur protein subcomplexes

7 January 2021

1 reference

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Skin fibroblast carnitine uptake in secondary carnitine deficiency disorders

7 January 2021

1 reference

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Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

7 January 2021

1 reference

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MELAS syndrome with mitochondrial tRNA(Leu)(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin

7 January 2021

1 reference

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Intracellular protein degradation in mammalian and bacterial cells

7 January 2021

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Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

7 January 2021

1 reference

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A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970323-8

10.1016/S0022-3476(97)70323-8

7 January 2021

Identifiers

DOI

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release_tqtjesbjyrd3fcp4h7sufglgkm

31 October 2019

Fatcat ID

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Fatcat

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mapped directly with Wikidata item

24 November 2022

based on heuristic

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