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)

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

The patient, a 52-year-old male, noticed abnormalities on walking at about 20 years of age, followed by slowly progressive muscle weakness of arms and neck. The family history was negative. He showed muscular atrophy and weakness with a preferential involvement of the scapular, arms and peroneal muscles. Deep tendon reflexes were absent. He had a limited range of motion in the spine, but the onset was unclear. Creatine kinase (CK) was elevated (324 IU/L) and the EMG study showed myogenic pattern. Muscle biopsy was obtained from the biceps brachii muscle; on NADH dehydrogenase stain, there was subsarcolemmal increase in the oxidative enzyme activity showing "lobulated fiber" mostly seen in type 1 fibers. On electron-microscopy, the sub-sarcoplasmic areas which had high NADH activity, contained many mitochondria and glycogen particles. However, iodine-glycogen complex spectrum analysis pattern and debranching enzyme activity were normal. CT scan revealed low density in the paravertebral muscles, suggesting degeneration. This is a rare type of scapuloperoneal atrophy different from Emery-Dreifuss syndrome, rigid spine syndrome and FSH type muscular dystrophy.
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PMID:[A case of scapuloperoneal atrophy with rigid spine having lobulated fibers in muscle biopsy]. 191 28

Lobulated fibers have been observed in biopsies of 13 patients with various neuromuscular disorders including limb-girdle muscular dystrophy (3), distal myopathy (2), scapuloperoneal muscular dystrophy (2), congenital myopathy, Kugelberg-Welander syndrome, hypothyroidism, steroid myopathy, osteomalacia and systemic lupus erythematosus (on steroids). In all cases there were fibers characterised by small subsarcolemmal triangular aggregates or more diffuse collections extending into the interior of the muscle fiber. These were strongly reactive with oxidative enzymes, acid phosphatase, periodic acid-Schiff (PAS), Verhoeff-van Gieson (VVG) and also stained red with the Gomori trichrome technique. In 5 cases core-like fibers were also seen. Morphometric analysis of the NADH-tetrazolium reductase (NADH-TR) preparations in 11 cases showed atrophy of the lobulated fibers. Ultrastructural studies of lobulated fibers disclosed large peripheral mitochondrial aggregates and focal areas with Z-line streaming and disrupted myofibrils. We consider this structural change of the muscle fiber as a reflection of muscle cell disruption and suggest that they may progress from lobulated fibers to more atrophic core-like fibers.
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PMID:Lobulated fibers in neuromuscular diseases. 316 2

The postnatal development of extrafusal fibers in the slow-twitch soleus muscle of genetically dystrophic C57BL/6J dy2J/dy2J mice and their normal age-matched controls was investigated by histochemical and quantitative methods at selected ages of 4, 8, 12, and 32 weeks. The majority of fibers in the soleus consisted of two kinds, fast-twitch oxidative-glycolytic (FOG) and slow-twitch oxidative (SO), according to reactions for alkaline-stable and acid-stable myosin ATPase and the oxidative enzyme, NADH-tetrazolium reductase. A minor population of fibers, stable for both alkaline- and acid-preincubated ATPase, but variable in staining intensity for NADH-TR, were designated "atypical" fibers. With age, the normal soleus exhibited a gradual increase in the number and proportion of SO fibers and a reciprocal, steady decline in the percentage of FOG fibers. Atypical fibers were numerous at 4 weeks, but were substantially diminished at later ages. Since total extrafusal fiber number remained relatively constant between the periods examined, this change in relative proportions reflects an adaptive transformation of fiber types characteristic of normal postnatal growth. A striking alteration in the number and distribution of fiber types was associated with the dystrophic soleus. At 4 weeks an 18% reduction in total fiber number was already noted. Subsequently, by 32 weeks a further 22% diminution in overall fiber number had occurred. With age, the absolute number and proportion of dystrophic SO fibers were drastically reduced. In contrast, the percentage of dystrophic FOG fibers increased significantly while their absolute numbers between 4 and 32 weeks remained relatively constant. Atypical fibers in the dystrophic solei were found in elevated numbers at all age groups, particularly at 12 weeks. They may, in part, represent attempts at regeneration or an intermediate stage in fiber-type transformation. Microscopically, both of the major fiber types appeared affected, albeit differently, by the dystrophic process. We suggest that a failure or retardation in the normal postnatal conversion of fiber types within the soleus muscle occurs in this murine model for muscular dystrophy.
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PMID:Abnormal distribution of fiber types in the slow-twitch soleus muscle of the C57BL/6J dy2J/dy2J dystrophic mouse during postnatal development. 665 Apr 41

It is shown that E-hypovitaminosis-induced muscular dystrophy in rabbits is accompanied by a sharp decrease in the body mass, an increase in the urine creatine-index, a decrease in the vitamin E and ubiquinone contents in the liver and skeletal muscle tissues. In the myocardium mitochondria a decrease in the vitamin E content and an increase in the ubiquinone content are observed. The activity of NADH-cytochrome c-, NADH-ubiquinone- and succinate-ubiquinone-reductase also varies in mitochondria of the studied tissues. In myocardium organellas a direct dependence is found between the content of ubiquinone, NADH- and succinate-ubiquinone-reductase activity and an inverse one-between its content and the activity of the NADH-cytochrome c-reductase system. It is established that p-oxybenzoic acid as well as vitamin E prevents development of muscular dystrophy and causes changes analogous in direction in the activity of the ubiquinone-dependent enzymic systems of mitochondria. Ubiquinone-9 is less efficient in preventing the development of muscular dystrophy.
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PMID:[Efficiency of ubiquinone and p-oxybenzoic acid in prevention of E-hypovitaminosis-induced development of muscular dystrophy]. 729 23

Multicore myopathy is a rare congenital myopathy. The multicores consist of numerous small areas of decreased oxidative enzyme activity. The long axis of the lesion is perpendicular or parallel to the long axis of the muscle fiber. These cores are usually smaller than central cores. For this reason they are also called minicores. Although the multicores represent a nonspecific change in that they can be observed in malignant hyperthermia, muscular dystrophy, inflammatory myopathy, etc. Muscular weakness dating from early infancy is combined large proportion of the muscle fibers. In about half of the reported cases the muscular weakness has not been progressive, while in the others a slow progression has occurred. This 9-year-old boy presented with congenital nonprogressive myopathy associated with thoracic scoliosis and bilateral equinovarus deformity. The serum creatine phosphokinase and lactic dehydrogenase levels were normal. Electromyography showed "myopathic" features. The biopsy revealed a marked size variation in myofibers, ranging from 10 microns to 100 microns. A few small angular fibers and slight endomyseal fibrosis were also noted. There was type I fiber predominance. NADH-TR reaction disclosed more well-defined cores with loss of intermyofibrillary mitochondrial activity. These cores were usually located with loss of intermyofibrillary mitochondrial activity. These cores were usually located in the peripheral portions of the myofibers and the core size measured 10-30 microns in diameter. Electron microscopic examination revealed circumscribed areas of disintegrated Z band material and disorganized sarcomeric units near the sarcolemma. A decrease in the number of mitochondria and glycogen particles was noted.
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PMID:Multicore myopathy--a case report. 819 69

Plummer-Vinson syndrome is a clinical entity associated with dysphagia, sideropenic anemia and atrophic glossitis. Using rabbits with iron deficiency anemia, the author investigated the cause of dysphagia in this syndrome. Iron deficient animals were produced by bolus feeding without iron and intramuscular injection of an iron-chelating agent. The fibers of swallowing muscles (the thyro-pharyngeal, cricopharyngeal and cervicoesophageal muscles) were classified into three types (Type 1, 2A and 2B fibers) by actomyosin ATPase staining. No significant difference between the muscles of sideropenic rabbits and those of normal rabbits were found in the composition and distribution of their muscle fibers. By NADH-TR staining, however, the disturbance of the intermyofibrillar network and/or a "Moth Eaton" appearance, known to be caused by leakage of mitochondria, were observed in Type 1 fibers of the swallowing muscles of sideropenic rabbits. These morphological changes are similar to those observed in progressive muscular dystrophy. The quantity of iron in the swallowing muscles of sideropenic rabbits was significantly reduced in comparison with that in the sternothyroid and femoral muscles. This finding suggests that a selective decrease in myoglobin occurs in the swallowing muscles of iron deficient animals. From these observations, it might be concluded that dysphagia in iron deficiency anemia is caused by a myogenic disorder.
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PMID:[Disorder of swallowing muscles in iron deficient rabbits]. 845 10

The progression of the pathological changes that occur in the skeletal muscle was examined in 19 Japanese quail of the LWC strain, affected with an autosomal dominant inherited muscular disorder producing electrical myotonia. The muscle samples were obtained every 10 days from 20 to 70 days of age. Muscle samples from 18 age-matched commercial quail were used as normal controls. Characteristic histological lesions found in the skeletal muscles included sarcoplasmic masses, ringed fibres, internal migration of nuclei and fibre size variation. These lesions, which mainly occurred in the proximal muscles, appeared first in the pectoral region and later in the muscles of the thoracic and pelvic limbs. The most predominant lesion observed at all ages consisted of sarcoplasmic masses. The presence of histological changes did not affect muscle fibre typing by two staining methods, for myosin ATPase at pH 4.5, and by NADH-TR stain. The histological changes were observed in type 2A and less commonly in 2B fibres, but not in type 1. The pectoralis thoracicus muscle, in which lesions were particularly common, showed abnormally large type 2B muscle fibres at 20 days of age. These fibres began to decrease in size at 30 days of age, and at 70 days had become strikingly atrophic, their diameter being only about half that observed at 20 days. The atrophic type 2B muscle fibres were eventually replaced by lipocytes. Chronological staging of the histopathological changes in muscle was impossible since no inter-relationship was observed between the age of the quail, the severity of clinical signs and the extent of muscle lesions. This variability in the severity and age of onset may have been due to the variable expression or incomplete penetrance of the defective gene. Because the disorder is hereditary and progressive in nature, it can be classified as a type of progressive muscular dystrophy.
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PMID:Inherited muscular disorder in mutant Japanese quail (Coturnix coturnix japonica): relationship between the development of muscle lesions and age. 854 70

We describe a family line with an autosomal recessive disease of muscular dystrophy of the diaphragmatic muscles in Holstein-Friesian cattle. Histopathological examination in the present cases revealed various degenerative changes in the diaphragmatic and other thoracic muscles as follows: variation in muscle fiber diameter, fiber splitting, sarcoplasmic masses, ring fiber, vacuolar and hyalinized degeneration of muscle fibers. In addition, central core-like structures were the prominent features in the diaphragmatic muscles, occupying the center of the fiber or scattered within the fiber. These pathological alterations are consistent with the diaphragmatic myopathy previously reported in Meuse-Rhine-Yssel cattle in the Netherlands. The fibers containing core-like structures consisted of three distinct zones which could be well distinguished by NADH-tetrazolium reductase activity. This activity was absent in the innermost zone, decreased in the intermediate zone, and normal or increased in the periphery. Electron microscopically, this structure appeared to be composed of focal myofibrillar degeneration beginning with streaming or disintegration of the Z disk. We discuss here the similarity between this core-like structure and the other alternative organelles that have been reported previously, and a possible defect or storage in the cytoskeleton from the findings of the Z disk abnormalities.
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PMID:Hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle. 854 24

A skeletal myopathy is found in approximately 100% of rasH2 mice. To confirm detailed features of the rasH2 skeletal myopathy, the biceps femoris, diaphragm, triceps brachii, gastrocnemial (types I and II fiber-mixed muscles) and soleus muscle (type I fiber-dominant muscle) obtained from male rasH2 and non-transgenic littermates aged 10-13 and 34 weeks were examined. Variations in the muscle fiber size, early-scattered degeneration/necrosis and regeneration of muscle fibers were detected in 10-13-week-old rasH2 mice. The severity of the above muscular lesions was more prominent in older rasH2 mice. These lesions were noted in the type II myofiber dominant muscles (biceps femoris, triceps brachii and gastrocnemial). NADH-TR stain clearly demonstrated a disorganized intermyofibrillar network and necrotic change in muscle fibers. No specific morphological changes, like rod structure or tubular aggregation seen in some types of myopathy, were noted in Gomori trichrome and NADH-TR stains in the rasH2 mouse like in many types of muscular dystrophy. Electronmicroscopically, occasional muscle fiber degeneration/regeneration, invaded phagocytic cells, indistinct Z-band suggesting excessive contraction and dilatation of the sarcoplasmic reticulum were observed. In summary, the skeletal myopathy occurring in rasH2 mice is consistent with muscular dystrophy characterized morphologically by progressive degeneration and regeneration of myofibers. The myopathy is confined to the type II myofiber predominant muscles and is not associated with any pathognomonic lesions. These characteristics will provide us with a useful model for research in muscular dystrophy of diverse myofibers.
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PMID:Histopathological characterization of the skeletal myopathy in rasH2 mice carrying human prototype c-Ha-ras gene. 1594 32


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