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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The chromosome analysis was used to examine three triads (sire - dam - progeny) and two pairs (sire - dam) after whom the progeny inherited the muscular dystrophy of extremities. In the first case, the examination included the progeny, in the second case only the parents. The examination was performed by using lymphocyte caryotypes of peripheral blood and evaluated by the method after Moorhead et al. (1960) modified by Lojda et al. (1974). Each animal had a separate card. In all animals, hyposomy, hyperploidy and polysomy occurred most frequently, less frequent was the occurrence of breaks. With respect to the variability of the found numerical and structural changes in caryotypes of the examined animals, it was impossible to generalize the specificity of these changes for the muscular dystrophy of extremities in pigs.
Vet Med (Praha) 1982 Sep
PMID:[Chromosome analysis of swine and their offspring with muscular weakness of the extremities]. 681 66

Interactins between skeletal muscle protein and amino acid metabolism were investigated using C57BL and 129ReJ mice with hereditary muscular dystrophy. On incubation, hind limb muscle preparations from dystrophic mice released large quantities of amino acids, particularly alanine and glutamine which were increased 70% and 40% compared to muscles from carrier or control mice. The increased alanine release did not result from altered alanine oxidation to CO2 or reincorporation into protein. Alanine and glutamine formation from added amino acids were equal with dystrophic and control muscles. Incorporation in vitro of leucine, alanine, and glutamate into proteins of dystrophic muscle was 3- to 7-fold greater than control muscle, and the incorporation in vivo of [3H]- or [14C]arginine into muscle proteins was greater in extent and earlier in time with dystrophic as compared to control muscle. Proteins were also labeled in vivo using [guanido-14C]arginine. On incubation of these muscles in vitro, a 100% greater loss of label from protein was observed with dystrophic as compared to control preparations, and the appearance of label in the media was correspondingly increased. Sodium dodecyl sulfate-gel electrophoresis of dystrophic skeletal muscle showed numerous protein bands to be reduced in density, but autoradiographic studies demonstrated that these same bands were more highly labeled in vitro by [35S]methionine in dystrophic than in control muscle. Although insulin stimulation of glucose uptake was markedly blunted in dystrophic muscle, insulin inhibited alanine and glutamine release equally from both control and dystrophic muscle. These data indicate that alanine and glutamine formation and release are increased in hereditary mouse muscular dystrophy. An accelerated degradation and an increased resynthesis of many muscle proteins were also observed in dystrophic compared to control animals. This increased proteolysis may account for the increased alanine and glutamine formation in dystrophic muscle.
J Biol Chem 1980 Sep 10
PMID:Skeletal muscle protein and amino acid metabolism in hereditary mouse muscular dystrophy. Accelerated protein turnover and increased alanine and glutamine formation and release. 689 25

Evidence is presented from electrophoresis and peptide-mapping for the existence of two major allelic forms of myosin light chain-1 in the fast white muscle fibers of domestic chickens. One form predominates in birds of White Leghorn stock, the other in birds of New Hampshire Red stock. The two light chain-1 forms were invariant during development. Variability was not detected in light chains-2 or -3. The distribution of the two forms in two strains homozygous for the am gene for muscular dystrophy--Connecticut dystrophic and line 413--and their controls, White Leghorn and line 412, respectively, while clearly unrelated to avian dystrophy, emphasizes the heterogeneity in background genes of these non-inbred lines and indicates caution in their use in studies of avian dystrophy.
Muscle Nerve 1982 Sep
PMID:Two major allelic forms of myosin light chain-1 in strains of normal and dystrophic chickens. 714 7

Preoperative and postoperative dynamic gait electromyography (EMG) weas performed on 15 patients 8 to 13 year of age with Duchenne's muscular dystrophy who underwent Achilles tendon lengthening and posterior tibial tendon transfer anteriorly through the interosseous ligament for correction of equinus and equinovarus foot deformities. The muscles tested preoperatively (anterior tibial, soleus, gastrocnemius, posterior tibial, peroneal longus, and peroneal brevis) showed phase changes. It is believed that patients with weakened leg muscles fire multiple muscle groups out of phase in an attempt to overcome the action of the stronger muscles, thus stabilizing the limb for ambulation. Postoperative EMGs, performed with the patients walking in long leg braces after the deformity had been corrected, showed little activity in the muscles tested. As the patients became dependent on the brace, the need for the muscles to be active out of phase was eliminated. The transferred posterior tibial muscle appeared to be active both clinically and electromyographically.
Foot Ankle 1980 Sep
PMID:Dynamic gait electromyography study in Duchenne muscular dystrophy (DMD) patients. 727 2

Clinical, electromyographic, and muscle biopsy findings in the two largest known families with Emery-Dreifuss humeroperoneal muscular dystrophy indicate that this is an X-linked recessive muscle disease with stereotyped clinical manifestations but with variable pathological and electromyographic characteristics. Elbow contractures, involvement of humeral muscles, hyporeflexia, and abnormal electrocardiograms are present in our patients. The disorder is associated with a potentially lethal cardiac arrhythmia that should be managed by pacemaker insertion. The skeletal muscle disease is slowly progressive and is usually not life threatening. Muscle biopsy commonly shows type I fiber atrophy. Electromyography usually indicates myopathy, though the classic findings of myopathy may not be present in every muscle.
Ann Neurol 1981 Sep
PMID:Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia. 729 29

Vitamin E levels were measured in the plasma of infants and children with various neuromuscular disorders. Seven of 8 infants with Werdnig-Hoffmann disease (WHD) had a significantly lower plasma vitamin E level (p less than 0.01) than age-matched normal controls, children with congenital myopathies, or children with muscular dystrophy. Vitamin E deficiency in WHD is not caused by malabsorption. A therapeutic trial of vitamin E in 3 patients with WHD did not change the natural course of the disease. Vitamin E deficiency may play a role in the pathogenesis of WHD.
Ann Neurol 1981 Sep
PMID:Vitamin E deficiency in Werdnig-Hoffmann disease. 729 34

Phonocardiographic and echocardiographic investigation was performed in patients with progressive muscular dystrophy of Duchenne type (PMD). The clinical materials consisted of 90 patients with PMD (aged 8 to 21 yrs, a mean of 14.5), and 90 normal subjects (aged 6 to 19 yrs, a mean of 11.7). The patients with PMD were classified into 8 stages from the mildest, S(1), to the severest, S(8), according to Swinyard-Deaver' criteria. In the 90 normal subjects the diminished first heart sound was noted in 12 cases (13.3%), presystolic murmurs in 4 cases (4.4%), and diastolic rumbles in 9 cases (10%), whereas, in the patients with PMD the diminished first heart sound was noted in 47 cases (52.2%), presystolic murmurs in 41 cases (45.6%), and diastolic rumbles in 44 cases (48.9%). There was a significant difference in the incidence of the above-mentioned three phonocardiographic findings between the PMD patients and the normal subjects. But there was no significant difference in the incidence of a systolic click between these two groups. The incidence of the diminished first heart sound increased with the progress of Swinyard-Deaver' classification. A presystolic murmur was observed with the highest incidence in the stage of S(8). The incidence of a rumble was also augmented with increasing severity of the disorder from the stages of S(1) to S(7), but decreased in S(8). Another attenpt was made to relate the phonocardiographic findings to those of the echocardiogram. In the cases with anterior mitral leaflet fluttering, there were diastolic rumble in 69% whereas 16.7% of the patients without anterior mitral leaflet fluttering had diastolic rumbles. In two-dimensional echocardiography, the anterior and posterior mitral leaflets looked like pennants fluttering in the wind. All these observations positively indicate that anterior mitral leaflet fluttering was closely associated with the genesis of rumbles. Consequently, it can be concluded that the diminished first heart sound, presystolic murmurs and diastolic rumbles might be useful clinical signs in the assessment of the myocardial involvement in PMD.
J Cardiogr 1981 Sep
PMID:[Heart sounds and heart murmurs in progressive muscular dystrophy of Duchenne type (author's transl)]. 732 May 59

The number of motor cells was significantly reduced in the C8 segment of the cervical spinal cord in all 12 cases of amyotrophic lateral sclerosis (ALS), in the C6 and/or C8 segments in 1 case of adult onset spinal muscular atrophy, 2 cases of Werdnig-Hoffmann (W-H) disease, 3 of 4 cases of chronic polyneuropathy and in 1 case of poliomyelitis and 1 of ossification of the posterior longitudinal ligament in the cervical spine (OPLL). The numbers of motor cells were normal in the C6 or C8 segment in 6 cases of muscular dystrophy, except in one case of congenital muscular dystrophy, who showed reduced numbers of the motor cells. Examination of the distribution of motor cells per 500 micrometers thickness in serial sections revealed that reduction in numbers of the motor cells was diffuse and symmetrical in half the cases of ALS and W-H disease and in the cases of chronic polyneuropathy and congenital dystrophy; diffuse but asymmetrical in the other ALS and W-H disease cases and in a case of adult spinal muscular atrophy, and localized and asymmetrical in the cases of poliomyelitis and OPLL. In muscular dystrophy the distribution of motor cells showed segmental variations similar to controls.
J Neurol Sci 1980 Sep
PMID:Morphometric quantification of the cervical limb motor cells in various neuromuscular diseases. 742 Jan 21

In a case of Engelmann's disease in an 11-year-old Japanese boy the muscular changes were studied in detail. Muscle weakness was maximal about the pelvic girdle. Muscle biopsy showed the selective atrophy of type II fibres, and no degenerative change could be seen histologically, histochemically, or electron-microscopically. Although the distribution of muscular weakness in Engelmann's disease is similar to that of a progressive muscular dystrophy, the disease does not seem to be a myopathy.
Arch Dis Child 1980 Sep
PMID:Muscular changes in Engelmann's disease. 743 38

Homozygous adhalin gene mutations were found in three patients from two consanguineous families with autosomal recessive childhood onset muscular dystrophy. Muscle biopsies from patients in each family showed complete absence of adhalin. Sequencing of adhalin cDNA prepared from skeletal muscle by reverse transcription PCR demonstrated a cytosine to thymidine substitution at nt 229 in the patient in family 1 and an adenine to guanine substitution at nt 410 and a 15-base insertion between nt 408 and 409 in the two patients in family 2. Sequencing of genomic DNA prepared from peripheral blood leukocytes by PCR confirmed these mutations. The parents in each family were found to be heterozygous for the respective mutations. These adhalin gene mutations are presumed to be responsible for the absence of adhalin in the skeletal muscle. Adhalin deficiency likely causes disruption of the muscle cell membrane, resulting in dystrophic changes in the skeletal muscle similar to dystrophin deficiency in Duchenne muscular dystrophy.
J Clin Invest 1995 Sep
PMID:Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. 765 92


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