Literature DB >> 6321192

Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency.

R C Sengers, J M Trijbels, J A Bakkeren, W Ruitenbeek, J C Fischer, A J Janssen, A M Stadhouders, H J ter Laak.   

Abstract

A girl was presented suffering from generalised weakness and cardiorespiratory insufficiency. She succumbed at the age of 5 months. Lactate levels were elevated in serum, cerebrospinal fluid and urine. Histopathological examination revealed a mitochondrial myopathy. In muscle tissue the cytochrome oxydase activity was strongly reduced. The content of cytochromes b and aa3 was very low. At autopsy a cardiomyopathy was found.

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Year:  1984        PMID： 6321192     DOI： 10.1007/bf00443221

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  12 in total

1.  Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue.

Authors:  J L Willems; L A Monnens; J M Trijbels; J H Veerkamp; A E Meyer; K van Dam; U van Haelst
Journal:  Pediatrics       Date:  1977-12       Impact factor: 7.124

2.  Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles.

Authors:  J P Van Biervliet; L Bruinvis; D Ketting; P K De Bree; C Van der Heiden; S K Wadman
Journal:  Pediatr Res       Date:  1977-10       Impact factor: 3.756

3.  Mitochondria-lipid-glycogen (MLG) disease of muscle. A morphologically regressive congenital myopathy.

Authors:  F Jerusalem; C Angelini; A G Engel; R V Groover
Journal:  Arch Neurol       Date:  1973-09

4.  Pyruvate oxidation in rat and human skeletal muscle mitochondria.

Authors:  H Bookelman; J M Trijbels; R C Sengers; A J Janssen; J H Veerkamp; A M Stadhouders
Journal:  Biochem Med       Date:  1978-12

5.  Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy.

Authors:  M Rimoldi; E Bottacchi; L Rossi; F Cornelio; G Uziel; S Di Donato
Journal:  J Neurol       Date:  1982       Impact factor: 4.849

6.  Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency.

Authors:  S DiMauro; J F Nicholson; A P Hays; A B Eastwood; R Koenigsberger; D C DeVivo
Journal:  Trans Am Neurol Assoc       Date:  1981

7.  Cytochrome-c-oxidase deficiency in a floppy infant.

Authors:  T D Heiman-Patterson; E Bonilla; S DiMauro; J Foreman; D L Schotland
Journal:  Neurology       Date:  1982-08       Impact factor: 9.910

8.  Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens.

Authors:  H Bookelman; J M Trijbels; R C Sengers; A J Janssen
Journal:  Biochem Med       Date:  1978-06

9.  Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency.

Authors:  S DiMauro; J R Mendell; Z Sahenk; D Bachman; A Scarpa; R M Scofield; C Reiner
Journal:  Neurology       Date:  1980-08       Impact factor: 9.910

10.  A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency.

Authors:  R C Sengers; J C Fischer; J M Trijbels; W Ruitenbeek; A M Stadhouders; H J ter Laak; H H Jaspar
Journal:  Eur J Pediatr       Date:  1983-09       Impact factor: 3.183
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  18 in total

Review 1.  Mitochondrial myopathies.

Authors:  S DiMauro; E Bonilla; M Zeviani; S Servidei; D C DeVivo; E A Schon
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

2.  Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease.

Authors:  M Glerum; B H Robinson; C Spratt; J Wilson; D Patrick
Journal:  Am J Hum Genet       Date:  1987-10       Impact factor: 11.025

3.  Foamy myocardial transformation in a child with a disturbed respiratory chain.

Authors:  H Böhles; H Singer; W Ruitenbeek; J M Trijbels; R C Sengers; U P Ketelsen; E Wagner-Thiessen; H Wick
Journal:  Eur J Pediatr       Date:  1987-11       Impact factor: 3.183

4.  Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder.

Authors:  A Bardosi; W Creutzfeldt; S DiMauro; K Felgenhauer; R L Friede; H H Goebel; A Kohlschütter; G Mayer; G Rahlf; S Servidei
Journal:  Acta Neuropathol       Date:  1987       Impact factor: 17.088

5.  Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.

Authors:  H Ibel; W Endres; H B Hadorn; T Deufel; I Paetzke; M Duran; N G Kennaway; K M Gibson
Journal:  Eur J Pediatr       Date:  1993-08       Impact factor: 3.183

6.  Clinical and molecular heterogeneity of cytochrome c oxidase deficiency in the newborn.

Authors:  A Lombes; N B Romero; G Touati; P Frachon; M A Cheval; M Giraud; D Simon; H Ogier de Baulny
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 7.  Complexity and tissue specificity of the mitochondrial respiratory chain.

Authors:  R A Capaldi; D G Halphen; Y Z Zhang; W Yanamura
Journal:  J Bioenerg Biomembr       Date:  1988-06       Impact factor: 2.945

8.  A mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency of muscle.

Authors:  P M Van Erven; F J Gabreëls; W Ruitenbeek; W O Renier; H J Ter Laak; A M Stadhouders
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-05       Impact factor: 10.154

9.  Multiple mitochondrial tRNA(Leu[UUR]) mutations associated with infantile myopathy.

Authors:  S Zanssen; M Molnar; J M Schröder; G Buse
Journal:  Mol Cell Biochem       Date:  1997-09       Impact factor: 3.396

10.  Mitochondrial myopathies: multiple enzyme defects in the respiratory chain.

Authors:  W Ruitenbeek; J M Trijbels; J C Fischer; R C Sengers; A J Janssen; C M Kerkhof
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982
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