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

scientific article published on 01 January 1994

Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/BF00711617
P698PubMed publication ID7967474

P2093author name stringA H van Gennip
H D Bakker
H R Scholte
N G Abeling
H F Busch
J A Jeneson
P2860cites workAn X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytesQ34247905
Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect.Q34363967
The NADH:ubiquinone oxidoreductase (complex I) of respiratory chainsQ35620962
Diseases of the mitochondrial DNA.Q35671010
Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseasesQ39604517
Familial NADH: Q1 oxidoreductase (complex I) deficiency: variable expression and possible treatmentQ43683510
Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cellsQ46798020
Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathyQ48254384
The clinical features of mitochondrial myopathyQ48291336
A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activityQ66981316
Gas chromatography of urinary N-phenylacetylglutamineQ66997363
31P-NMR study of skeletal muscle metabolism in patients with chronic respiratory impairmentQ67567754
Contribution of skeletal muscle atrophy to exercise intolerance and altered muscle metabolism in heart failureQ68084268
A linear model of muscle respiration explains monoexponential phosphocreatine changesQ68304703
Carnitine deficiency, mitochondrial dysfunction and the heart. Identical defect of oxidative phosphorylation in muscle mitochondria in cardiomyopathy due to carnitine loss and in Duchenne muscular dystrophyQ69940803
Bioenergetics of intact human muscle. A 31P nuclear magnetic resonance studyQ71222853
Vitamin E in a mitochondrial myopathy with proliferating mitochondriaQ72225726
Mitochondrial Myopathy with Partial Cytochrome Oxidase Deficiency and Impaired Oxidation of NADH-Linked SubstratesQ72394444
NADH-CoQ reductase deficient myopathy: successful treatment with riboflavinQ72560397
Treatment of complex I deficiency with riboflavinQ72576684
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectvitaminQ34956
vitamin deficiencyQ194435
lactic acidosisQ1500373
vitamin D deficiencyQ4138762
P304page(s)196-204
P577publication date1994-01-01
P1433published inJournal of Inherited Metabolic DiseaseQ6295359
P1476titleVitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis
P478volume17

Reverse relations

cites work (P2860)
Q40379245Disorders of mitochondrial long-chain fatty acid oxidation
Q45012788Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases
Q28301883Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin
Q73897533Modification of swelling-contraction-aggregation processes in rat muscle mitochondria by the 1,4-dihydropyridines, cerebrocrast and glutapyrone, themselves and in the presence of azidothymidine
Q47709526Pulmonary hypertension as a manifestation of mitochondrial disease: A case report and review of the literature
Q71841152Riboflavin-responsive complex I deficiency
Q57987777Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
Q41180888The treatment of congenital lactic acidoses

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