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Article
Infantile motor neuron disease with autonomic dysfunction and bunina bodies
A 2-month-old girl developed motor neuron disease (MND) with autonomic disturbances and died at the age of 5 months. Neuropathological examination revealed Bunina bodies (BBs) in the lower motor neurons of th...
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Article
Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV
An infant with severe deficiency of complex III combined with less severe deficiencies of complexes I, II and IV of the mitochondrial respiratory chain in skeletal muscle tissue presented with intra-uterine g...
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Article
Myopathology in patients with a Noonan phenotype
Two patients with a Noonan phenotype and progressive hypertrophic obstructive cardiomyopathy are described, in whom abnormal histopathological changes in striated musculature were detected. In both patients a...
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Article
Benign mitochondrial encephalomyopathy in a patient with complex I deficiency
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Article
Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain
A patient with neonatal expression of severe De Toni-Debré-Fanconi syndrome is presented. Because of early signs of renal tubulopathy together with a large urinary excretion of lactate, 3-hydroxybutyrate and c...
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Article
Dilated cardiomyopathy with 3-methylglutaconic aciduria
The case of an infant with both dilated cardiomyopathy and 3-methylglutaconic aciduria is presented. The literature on this subject is reviewed.
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Article
Congenital muscular dystrophy
Histomorphological and histochemical variability was studied in muscle specimens from 30 patients with congenital muscular dystrophy (CMD). We found involvement of the central nervous system in 8 patients (Fuk...
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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
Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies
Patients suffering from a mitochondrial (encephalo-)myopathy have a remarkable clinical heterogeneity. A reliable and extensive investigation must be performed in order to obtain a correct diagnosis, but many ...
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Article
The use of chorionic villi in prenatal diagnosis of mitochondriopathies
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Article
Lipid peroxidation in homocysteinaemia
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Article
3-methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism
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Article
Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies
In six patients with mitochondrial (encephalo-) myopathy investigations of skeletal muscle revealed a defect of pyruvate dehydrogenase complex (PDHC) in combination with one or more respiratory chain complex d...
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Article
Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose
Formation of lactate and pyruvate from glucose was studied in cultured amniocytes and chorionic villus fibroblasts from controls, either untreated or treated with azide, an inhibitor of cytochromec oxidase, or ot...
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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
Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies
We describe eight children with complex I deficiency, four of them with an isolated, the other four with an additional deficiency of complex IV. Clinical, chemical and morphological findings were compared from...
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Article
Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts
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Article
Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies
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Article
Deficiency of the α and β subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death
An infant with moderate muscular hypotonia and congenital lactic acidosis died suddenly at the age of 3 months. Autopsy revealed no abnormalities responsible for this unexpected death. Measurement of mitochond...
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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...
