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At least 541 records · Page 30Linked to original sources
PubMed1986

[Satellite cells in movement disorders of various etiologies].

The ultrastructural analysis of the muscle biopsy samples from patients with different neuro-muscular diseases revealed; both degeneration and regeneration of the muscle fibres. The number of satellite cells was increased due to their division and myonuclear segregation. Activated satellite cells were converted into myoblasts which probably could replace the injured fragments of the muscle fibres or form the myotubes. The process of muscle fibre regeneration is restricted not only by the damage of the muscle itself, but by the dystrophic process affecting satellite cells.

Cell Differentiation↗
PubMedDate not supplied

Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.

X-linked recessive myotubular myopathy (XLMTM) is a very severe congenital muscular disease characterised by an impaired maturation of muscle fibres, and caused by defects in the MTM1 gene. This gene defines a new family of putative tyrosine phosphatases conserved through evolution. We have determined intronic flanking sequences for all the 15 exons to facilitate the detection of mutations in patients and genetic counselling. We characterised a new polymorphic marker in the immediate vicinity of the gene, which might prove useful for linkage analysis. Sequencing of the TATA-less predicted promoter provides the basis for transcriptional regulatory studies.

Base Sequence↗
PubMed1985

Myotonic dystrophy-like disease in a dog.

A mature female Rhodesian Ridgeback was determined to have a progressive, degenerative myopathy associated with myotonia, dysphagia, and marked muscle wasting. Clinical findings revealed a diffuse muscular disease with percussion dimpling, dysphagia, and creatine kinase elevation. A paroxysmal atrial tachycardia was found. Electromyography revealed a diffuse myopathy with high-frequency bizarre waves, myotonic discharges especially in the masticatory, laryngeal, and pharyngeal muscles. A few positive sharp waves were found in some of the appendicular muscles. Histopathologic and histochemical stains on skeletal muscle biopsy specimens demonstrated moderate fiber-size variation, myofiber architectural changes, muscle-fiber splitting, focal necrosis and phagocytosis, high percentage of internal nuclei, and atrophy of type-2 muscle fibers. A review of myotonic myopathies in the dog is presented. The clinical, electrophysiologic, and histochemical findings are similar to those for myotonic muscular dystrophy in man.

Animals↗
PubMed1984

[Perinatal symptomatology of severe neuromuscular diseases. Apropos of 11 cases].

The neonatal diagnosis of neuro-muscular diseases is difficult. From a series of 11 neonates presenting with such diseases, ante and postnatal semiology has been studied. During pregnancy, hydramnios (7/11) and decreased active movements were the most frequent symptoms. Delivery was often dystotic (7/11). After birth, respiratory distress, lack of motility, hypotonia, and muscle and tendon retraction were the clinical manifestations (10/11). Knowledge of this semiology should facilitate the ante and postnatal screening of affected patients. The diagnosis depends on family history and, overall, on the results of muscle biopsy.

Biopsy↗
PubMed1993

Operation of controls on consumer products by physically impaired users.

The self-reliance of the physically impaired can be seriously jeopardized by their inability to operate everyday products, especially if both upper extremities are impaired. To determine the difficulties impaired users encounter in operating consumer product controls, on-site video recordings were made of subjects suffering from arthritis or a muscular disease. Subjects' force exertion was compared with that of a group of nonimpaired users. The resulting inventory allowed the analysis of the manipulation problems faced by impaired subjects and the development of design recommendations. In this study the force exerted by the subjects and that required to operate the controls were measured. A comparison of the results of these force measurements led to a number of conclusions. This study led to the following design recommendations: the amount of force required to operate controls should be kept as low as possible; the user should not be required to make two manipulations at the same time, such as simultaneously pushing and rotating a control device; pushing is preferable to rotating; and there should be a great degree of freedom to manipulate controls.

Activities of Daily Living↗
PubMed2003

Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease.

Oculopharyngeal muscular dystrophy (OPMD) is a muscle disease of late onset associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs). OPMD is usually transmitted as an autosomal dominant trait (OMIM 164300). A rarer allelic autosomal recessive form has also been observed (OMIM 257950). Both forms are caused by short (GCG)8-13 expansions in the polyadenylate-binding protein nuclear 1 gene (PABPN1) located on chromosome 14q11.1. The mutations cause the lengthening of an N-terminal polyalanine domain. Both slippage and unequal recombination have been proposed as the mutation mechanisms. The size of the mutation has not yet been conclusively shown to inversely correlate with the severity of the phenotype. Mutated PABPN1 proteins have been shown to be constituents of the INIs. The INIs also contain ubiquitin, proteasome subunits, HSP 40, HSP 70, SKIP, and abundant poly(A)-mRNA. The exact mechanism responsible for polyalanine toxicity in OPMD is unknown. Various intranuclear inclusion dependent and independent mechanisms have been proposed based on the major known function of PABPN1 in polyadenylation of mRNA and its shuttling from the nucleus to the cytoplasm. OPMD is one of the few triplet-repeat diseases for which the function of the mutated gene is known. Because of the increasing number of diseases caused by polyalanine expansions and the pathological overlap with CAG/polyglutamine diseases, what pathological insight is gained by the study of OPMD could lead to a better understanding of a much larger group of developmental and degenerative diseases.

Age of Onset↗
PubMed1996

X-linked myotubular myopathy: refinement of the critical gene region.

X-linked recessive myotubular myopathy (XLMTM) is a severe neonatal neuro-muscular disease characterized by muscle weakness, hypotonia, and respiratory problems. The locus for the XLMTM gene (MTM1) has previously been mapped to Xq28 between the markers DXS304 and DXS497 by linkage analyses and by determining the breakpoints of deletion patients. We report linkage analysis data or 20 XLMTM families who were tested using the DNA markers DXS1113, DXS304, DXS455, DXS1684, DXS305 and DXS52 and present two families showing recombination between MTM1 and either DXS304, DXS334 or DXS305. We found each of the families to be informative for at least three markers. Based on these findings we excluded 30 women from being carriers, the carrier status of 17 obligate carrier mothers could be confirmed and eight mothers and sisters were identified as to be at high risk of carrying a MTM1 mutation. By combining recently published data with the results of our recombinant families, we suggest that the MTM1 locus maps between DXS334 and DXS497 narrowing the region of interest from 600 kb to an estimated < 500 kb interval. This additional refinement in the localization of MTM1 means a further step towards the isolation of the gene in the near future, and allows more reliable and efficient carrier detection and prenatal diagnosis.

Chromosome Mapping↗
PubMed1993

[Toxic myopathies: clinical, etiologic, and histologic study of 74 cases].

BACKGROUND: Toxic myopathies are a frequent cause of acquired myopathy in adults. The type of drugs or toxins involved varies greatly according to the epidemiologic context in which they are evaluated. An etiological, clinical and histological review of the toxic myopathies diagnosed in a group of study of muscular diseases in a third level hospital was carried out. METHODS: An eight year retrospective study of clinical and histological review of patients in whom muscle biopsy was performed to diagnose toxic myopathies in the Hospital Clinic i Provincial of Barcelona was performed. RESULTS: The most frequent causes of toxic myopathy with clinical relevance were those due to the consumption of zidovudin, ethanol, prednisone, heroin, and neuroleptic, hypolipemiant and diuretic drugs, with other causes being less frequent. In 52% of the cases an elevation of muscle enzymes (creatinkinase) was observed. In 51% it was attributed to the administration of a drug at therapeutic doses, in 34% to voluntary intoxication (attempt at autolysis or drug dependence) and in 15% the cases were accidental. The histologic study of the muscle biopsy was normal in 10% of the cases and changes indicative of a determined etiology were observed in 65% and were non-specific in the remaining 25%. More than a half of the patients were asymptomatic at 3 months of initiation of the symptoms. CONCLUSIONS: Toxic myopathies often follow a paucisymptomatic form. Most have a non-specific histologic substrate and improve upon suppression of the producing cause. The performance of muscle biopsy gives positive or negative clinically useful information in 60% of the cases, by discarding other possible causes of myopathy.

Adolescent↗