(Q68262851)

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23 September 2019

title

Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies (English)

1 reference

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23 September 2019

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4

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23 September 2019

author name string

J Müller-Höcker

1

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23 September 2019

H Ibel

2

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23 September 2019

I Paetzke

3

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23 September 2019

W Endres

5

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23 September 2019

B Kadenbach

6

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23 September 2019

J M Gokel

7

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23 September 2019

G Hübner

8

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23 September 2019

publication date

1 January 1991

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Virchows Archiv. A, Pathological Anatomy and Histopathology

23 September 2019

published in

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23 September 2019

volume

419

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23 September 2019

issue

4

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23 September 2019

page(s)

355-362

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Carnitine metabolism and inborn errors

23 September 2019

cites work

1 reference

12 December 2020

Extensive defects of mitochondrial electron-transfer chain in muscular cytochrome c oxidase deficiency

1 reference

12 December 2020

Mitochondrial myopathies: genetic defects

1 reference

12 December 2020

Focal deficiency of cytochrome c oxidase and of mitochondrial ATPase with histochemical evidence of loosely coupled oxidative phosphorylation in a mitochondrial myopathy of a patient with bilateral ptosis. An enzyme histochemical, immunocytochemical

1 reference

12 December 2020

Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle

1 reference

12 December 2020

Characterization of two different genes (cDNA) for cytochrome c oxidase subunit VIa from heart and liver of the rat

1 reference

12 December 2020

Familial mitochondrial myopathy associated with peripheral neuropathy: partial deficiencies of complex I and complex IV

1 reference

12 December 2020

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

1 reference

12 December 2020

A mitochondrial encephalomyopathy with cardiomyopathy. A case revealing a defect of complex I in the respiratory chain

1 reference

12 December 2020

Fatal mitochondrial cardiomyopathy in Kearns-Sayre syndrome with deficiency of cytochrome-c-oxidase in cardiac and skeletal muscle. An enzymehistochemical--ultra-immunocytochemical--fine structural study in longterm frozen autopsy tissue.

1 reference

12 December 2020

Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis

1 reference

12 December 2020

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

1 reference

12 December 2020

Mitochondrial mutation in fatal infantile cardiomyopathy

1 reference

12 December 2020

Findings in muscle in complex I (NADH coenzyme Q reductase) deficiency

1 reference

12 December 2020

Partial deficiency of subunits in complex I or IV of patients with mitochondrial myopathies

1 reference

12 December 2020

Mitochondrial Myopathy with Partial Cytochrome Oxidase Deficiency and Impaired Oxidation of NADH-Linked Substrates

1 reference

12 December 2020

Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy.

1 reference

12 December 2020

Molecular defects in cytochrome oxidase in mitochondrial diseases

1 reference

12 December 2020

The molecular pathology of respiratory-chain dysfunction in human mitochondrial myopathies

1 reference

12 December 2020

Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies

1 reference

12 December 2020

Immunocytochemical studies of cytochrome oxidase subunits in skeletal muscle of patients with partial cytochrome oxidase deficiencies

1 reference

12 December 2020

Immunological and chemical characterization of rat liver cytochrome c oxidase

1 reference

12 December 2020

A mitochondrial encephalomyopathy with specific deficiencies of two respiratory chain polypeptides and a circulating autoantibody to a mitochondrial matrix protein.

1 reference

12 December 2020

Deficiency of subunits of complex I or IV in mitochondrial myopathies: immunochemical and immunohistochemical study

1 reference

12 December 2020

Variability in the activity of respiratory chain enzymes in mitochondrial myopathies

1 reference

12 December 2020

Cytochrome oxidase deficiency: clinical and biochemical heterogeneity

1 reference

12 December 2020

Hereditary mitochondrial hypertrophic cardiomyopathy with mitochondrial myopathy of skeletal muscle, congenital cataract and lactic acidosis

1 reference

12 December 2020

Respiration-defective Chinese hamster cell mutants containing low levels of NADH-ubiquinone reductase and cytochrome c oxidase

1 reference

12 December 2020

Mitochondrial myopathies with necrotizing encephalopathy of the Leigh type.

1 reference

12 December 2020

Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy

1 reference

12 December 2020

Multiple defects of the respiratory chain including complex II in a family with myopathy and encephalopathy

1 reference

12 December 2020

Fatal mitochondrial myopathy with cytochrome-c-oxidase deficiency and subunit-restricted reduction of enzyme protein in two siblings: an autopsy-immunocytochemical study

1 reference

12 December 2020

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

1 reference

12 December 2020

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

1 reference

12 December 2020

Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy

1 reference

12 December 2020

Mitochondrial myopathies: multiple enzyme defects in the respiratory chain

1 reference

12 December 2020

Nuclear functions required for cytochrome c oxidase biogenesis in Saccharomyces cerevisiae. Characterization of mutants in 34 complementation groups

1 reference

12 December 2020

Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency

1 reference

12 December 2020

Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes

1 reference

12 December 2020

Progressive cytochrome c oxidase deficiency in a case of Leigh's encephalomyelopathy

1 reference

12 December 2020

Deficiency of subunits in heart mitochondrial NADH-ubiquinone oxidoreductase of a patient with mitochondrial encephalomyopathy and cardiomyopathy.

1 reference

12 December 2020

Generalized mitochondrial microangiopathy and vascular cytochrome c oxidase deficiency. Occurrence in a case of MELAS syndrome with mitochondrial cardiomyopathy-myopathy and combined complex I/IV deficiency.

1 reference

12 December 2020

Cytochrome-c-oxidase deficient cardiomyocytes in the human heart--an age-related phenomenon. A histochemical ultracytochemical study.

1 reference

12 December 2020

Partial deficiency of complexes I and IV of the mitochondrial respiratory chain in skeletal muscle of two patients with mitochondrial myopathy

1 reference

12 December 2020

The clinical features of mitochondrial myopathy.

1 reference

12 December 2020

Evidence for the existence of tissue specific isoenzymes of mitochondrial NADH dehydrogenase

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation and properties of cytochrome c oxidase from rat liver and quantification of immunological differences between isozymes from various rat tissues with subunit-specific antisera

1 reference

12 December 2020

Mitochondrial myopathies involving the respiratory chain: a biochemical analysis

1 reference

12 December 2020

Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseases

1 reference

12 December 2020

Histiocytoid Cardiomyopathy of Infancy: Deficiency of Reducible Cytochrome b in Heart Mitochondria

1 reference

12 December 2020

Mitochondrial cardiomyopathy with involvement of skeletal muscles

1 reference

12 December 2020

Mitochondrial myopathy with a defect of mitochondrial-protein transport

1 reference

12 December 2020

Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV.

1 reference

12 December 2020

[Cardiomyopathy and hereditary neuromuscular disorders]

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12 December 2020

Identifiers

DOI

10.1007/BF01606527

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1659034%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

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