Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Human skeletal muscle homogenate has been shown to contain enzymes that catalyze the hydrolysis of L-leucyl p-nitroanilide and carbobenzoxyglutamyl-L-tyrosine, known substrates, respectively, for arylamidase and cathepsin A. The muscle arylamidase was found to be inhibited by p-chloromercuribenzoate. Addition of Co2+ resulted in slight stimulation of its activity. Neither ethylenediamine tetraacetate nor thiol compounds had any appreciable effect on the enzyme. When compared to controls, no significant differences in muscle arylamidase levels were observed in patients with muscular dystrophies and certain selected neuromuscular diseases. Cathepsin A was, however, increased in muscles moderately affected by muscular dystrophy and denervating diseases.
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PMID:Arylamidase and cathepsin-A activity of normal and dystrophic human muscle. 0 99

gamma-Glutamyl transpeptidase, a membrane-bound enzyme playing an important role in the active amino acid transport across cellular membranes, is shown to be elevated in the serum of patients with myotonic muscular dystrophy. No increase of AP, LAP, GOT and GPT activities in the sera of some of the patients studied is observed. Possible interpretations in relation to the pathogenesis of myotonic dystrophy are discussed.
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PMID:Gamma-glutamyl transpeptidase. Elevated activity in myotonic dystrophy. 0 80

The activities of NADPH-dependent oxidative demethylation of aminopyrine and other methyl compounds in the liver microsomes from dystrophic mice were found to be about 30% higher than those of the normal mice. Consumption of reduced pyridine nucleotides during the demethylation reactions was also significantly larger in the dystrophic mouse system than in the normal mouse system. The synergistic effect of further addition of NADH on the oxidative demethylation in the reaction system with NADPH, however, was not significant in either the normal or the dystrophic mouse system. The activities of NADPH-cytochrome c reductase and lipid peroxidation were also higher by about 30% in the dystrophic mouse than in the normal mouse, but the contents of cytochrome P-450 and phospholipids in the liver microsomes from normal and dystrophic mice were not appreciably different. The results suggest the possibility that the progressive muscular dystrophy may involve abnormal features in not only muscle but also liver and other tissues.
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PMID:Higher activity of oxidative drug demethylation in the liver microsomes from dystrophic mouse. 0 58

Sorption properties of sarcolemma preparations isolated from skeletal muscles of normal and E-avitaminous rabbits were studied relative to organic ions. Analysis of isotherms of sarcolemma equilibrium binding of neutral red cations and turquoise direct lightfast "K" anions made it possible to determine the number of positively and negetively charged sorption centres, which fix the mentioned dyes. With E-avitaminous muscular dystrophy the number of the centres increases considerably. A larger number of the positively charged centres fixing the surquoise dye are found both in the control and in case of dystrophy. The calcium ions prevent the neutral red sorption and intensify the turquoise direct sorption. In the sarcolemma preparations isolated from the muscles of the E-avitaminous rabbits the content of calcium ions is almost twice as high and the number of sulphydryl groups is 30-40% less as compare to the normal level. The data presented evidence for structural changes in sarcolemma with E-avitaminous muscular dystrophy.
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PMID:[Structural changes in sarcolemma with E-avitaminosis dystrophy]. 1 66

As revealed by a very thorough cardiological study of Steinert's disease in 13 cases, it would appear that the incidence of cardiac involvement observed in this disease is not merely frequent; it is, in fact, usual, systematic, and forms an integral part of the pathological picture in the same way as peripheral muscular dystrophy. One is aware of the diagnostic interest of this fact in the juvenile or abortive forms of the disease. The cardiac involvement is an indication of the complete expression of the gene towards striated muscle tissue, whether skeletal or myocardial. Finally, it opens new perspectives on the prophylactic attitude to be adopted for such patients; regular and systematic cardiological checks, moderation in the prescription of digitalis and anti-arythmia drugs, implantation of a cardiac pacemaker before an auriculo-ventricular syncopal block occurs.
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PMID:[Steinert's syndrome and the myocardium. Total gene expression by the myocardium]. 5 6

The incidence of electrocardiographic features "typical" for the Duchenne progressive muscular dystrophy (PMD) was investigated in 191 carriers: 136 mothers and 55 daughers. The typical PMD pattern was seen in 6.6% of the mothers, and a pattern similar to that observed in PMD in 2.9%. Among daughters of carriers the percentages were 16.4 and 1.8 respectively. The daughters obviously belong to a much lower age bracket (average 13.3 years) and therefore must be followed for the eventual disappearance of the "juvenile" ECG features, which, in this group, may reduce the incidence of the typical PMD electrocardiograms. The need for more thorough clinical appraisal of the myocardium in carriers is emphasized, especially in those with the "typical" PMD electrocardiograms, with the help of hemodynamic investigations.
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PMID:Electrocardiographic studies in female carriers of Duchenne muscular dystrophy. 5 11

Electrophysiological findings in 40 cases of non-progressive myopathies are reported, and compared with a group of 20 cases of Duchenne progressive muscular dystrophy and a control group. In all cases the electrophysiological changes were of the mild s. c. myogenic type. The involvement of proximal and distal muscles was equal without prevalence in proximal muscles as is typical for Duchenne's dystrophy. EMG reexaminations showed a slight progression of the diseases. A peculiar feature of myotubular myopathy was spontaneous activity (fibrillation) in 70% of muscles. A myogenic character of the process of congenital deficiency of muscle innervation with preserved number of motor units is suggested.
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PMID:Electromyographic findings in the so-called non-progressive myopathies. 5 90

The mild, generalized myopathy (glycogenosis type II) of a 23-year-old male, previously thought to have progressive muscular dystrophy, was studied clinically, electro-myographically, biochemically and with light- and electron microscopes. However, the history and clinical aspects, as well as the registration of high frequency discharges in the electromyogram first made the diagnosis uncertain. This kind of spontaneous activity has been found in nearly all cases reported in the literature. Light microscopic and histochemical examinations show vacular degeneration and glycogen storage in muscle fibres. With the electron microscope we found free dispersed glycogen in the cytoplasm and membrane-bound glycogen, glycogen-filled lysosomes. Biochemical measurements of the muscle enzymes, involved in the glycogen breakdown, were normal except for acid alpha-1,4-glucosidase, which was deficient. The evidence of these findings in this abortive form of glycogenosis type II is discussed and compared with the few cases found in the literature.
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PMID:The symptomatology, morphology and biochemistry of glycogenosis type II (Pompe) in the adult. 5 76

Acid maltase deficiency is described in non-identical adult twins. The onset of the disease can be traced into late infancy; the clinical picture is one of severe muscular dystrophy; respiratory insuficiency was the cause of death in one case. The autopsy showed the central nervous system, heart and liver to be spared. Glycogen filled vacuoles are found in skin, mesenchymal cells, small nerves and skeletal muscles. The light microscopic study of 9 different muscles showed extremely variable involvement ranging from normal appearance to overt vacuolization. A 6--20% residual acid alpha-glucosidase activity was found in visceral organs, cultured fibroblasts and in some skeletal muscles. No satisfactory explanation can be given why this generalized acid alpha-glucosidase deficiency produces a selective involvement of skeletal muscles. If compared with infantile AMD (Pompe's disease) our cases have a much higher residual acid alpha-glucosidase activity and show the presence of an antigenically detectable protein. From our study and from a similar report in the literature (de Barsy et al., 1975), it appears that a combined approach of light microscopy, electron microscopy and biochemical analysis (determination of acid alpha-glucosidase) is necessary to make a diagnosis of AMD in adults.
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PMID:Acid maltase deficiency in non-identical adult twins. A morphological and biochemical study. 6 Apr 70

A 40-year-old man suffered for 5 years from a progressive proximal myopathy mimicking an atypical limb-girdle dystrophy. A "myopathic" pattern with myotonic and pseudomyotonic discharges was determined by electromyography. Enzyme histochemical and ultrastructural investigations of muscle and liver biopsies pointed to a glycogenosis. Biochemical investigations of muscle and liver samples confirmed this diagnosis, disclosing an acid maltase deficiency. Glycogen filled lysosomes were also revealed electron optically in skin fibroblasts but not in white blood cells. The literature concerning the late onset forms of acid maltase deficiency (type II glycogenosis) has been reviewed, and the clinical course has been compared with that of the infantile form (Pompe's disease). In early infancy the disease has a short and fatal course, with involvement of many organs. primarily skeletal muscules, liver and heart. In the late infantile and juvenile forms the course of the disease is slower, the organ involvement beeing not as severe; muscular symptoms begin to prevail. In adults, type II glycogenosis mimics muscular dystrophy with its prolonged course and the almost exclusive clinical involvement of proximal muscles. Biochemical and ultrastructural investigations have nevertheless demonstrated that other organs and tissues are also involved. The reasons for the variability of organ involvements in different ages are as yet unknown.
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PMID:[Pseudodystrophic muscle glycogenosis in adults. (Acid maltase deficiency syndrome) (author's transl)]. 6 Dec 60


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