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Article
A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis
The objectives of this study were to describe the course of two forms of an hereditary syndrome characterised by congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis. We...
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Article
Vimentin and desmin expression in degenerating and regenerating dystrophic murine muscles
The distribution of the intermediate filament proteins (IFP) desmin and vimentin was studied in gastrocnemius, plantaris and soleus muscles of the dystrophic mouse strain ReJ 129 during postnatal development. ...
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Article
Lipid peroxidation in homocysteinaemia
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Article
Increased volume density of peripheral mitochondria in skeletal muscle of children with exercise intolerance
Muscle biopsies from 17 children with exercise intolerance and other miscellaneous symptoms and signs showed changes in mitochondrial content. The patients could not be classified according to known criteria. ...
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Article
Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy
Three patients suffering from the neonatal form of a syndrome characterized by congenital cataract, hypertrophic cardiomyopathy, and mitochondrial myopathy are described. The patients died at 7, 10 and 18 days...
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Article
Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity
A patient with severe muscular hypotonia, failure to thrive, a metabolic acidosis and a renal tubular dysfunction is presented. The disease followed a fatal course. Blood lactate and pyruvate levels as well as...
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Article
Secondary mitochondrial pathology
A considerable number of myopathies seem to involve the mitochondria but the various causes may be situated outside the mitochondria. These can be categorized as (1) deficiency; (2) intoxication; (3) disturbed...
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Article
Morphological observations in skeletal muscle from patients with a mitochondrial myopathy
Mitochondrial metabolic dysfunction is considered to be the cause of certain congenital myopathies and a number of multisystem disorders in humans. The morphological hallmark of these diseases is the ‘ragged r...
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Article
The use of backscattered electrons in analytical electron microscopy for the measurement of the mass of individual rat blood platelets
The backscattered electron signal, generated in individual cells, has been used to measure the dry mass of these cells. Absolute mass values were obtained by comparing the backscattered electron signals of cel...
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Article
A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q
A patient is presented who had therapy-resistant epileptic seizures from the 7th day of life. Examination at the age of 17 months revealed a mentally retarded boy with epileptic seizures, generalised myoclonic...
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Article
Tight junctional permeability of the resting and carbachol stimulated exocrine rabbit pancreas
The permeability of the pancreatic epithelium to horseradish peroxidase is investigated in the resting and carbachol stimulated rabbit pancreas. Horse radish peroxidase administered to the bathing medium of th...
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Article
Elemental analysis of individual rat blood platelets by electron probe X-ray microanalysis using a direct quantification method
The elemental content of individual rat blood platelets and their dense granules was determined by electron probe X-ray microanalysis using a direct quantification method with microdroplets as standards. The q...
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Article
Mitochondrial myopathies
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Article
Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency
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. Histopa...
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Article
A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency
A boy presented suffering from generalised weakness, exercise intolerance and lactic acidosis. The weakness became evident at 2 years. A cerebral CT-scan showed cerebellar atrophy and central and peripheral at...
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Article
Dysmyelination and disturbed metabolism of pyruvate: a case report
A patient with dysmyelination is described. Lactate levels were elevated in serum, urine, and cerebrospinal fluid. A decreased pyruvate oxidation rate due to a pyruvate dehydrogenase complex deficiency was dem...
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Article
Kearns syndrome: A heterogeneous group of disorders with CPEO, or a nosological entity?
In connection with 4 new cases of Kearns syndrome (multisystem form of mitochondrial CPEO), the condition was found to be present in slight to oligosymptomatic form in all 4 families. The marker symptom in sub...
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Surface Ultrastructure of the Uterine Cervix and Early Detection of Irreversible Neoplasia
The plasma membrane-cell surface complex is of crucial significance for the social behavior of cells within cell populations (Nicolson 1977; Poste 1977; Nicolson et al. 1977). Alterations in cell surface organ...
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Article
Estimation of energy metabolism in human skeletal muscle homogenate as a diagnostic aid
A method is presented for thein vitro testing of the energy metabolism of human skeletal muscle. The levels of creatine phosphate, ATP, ADP and AMP, which are defined by the activity of many enzyme systems, are m...
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Article
Successful carnitine treatment in a non-carnitine-deficient lipid storage myopathy
An 18-month-old boy presented with general hypotonia, decreased muscle strength, retarded motor development and stunted growth. The excretion of dicarboxylic acids was enhanced. EMG was normal. A muscle biopsy...
