Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “MUSCULAR DISEASES”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 55 records · Page 3Linked to original sources
PubMedDate not supplied

[Long-term hypertransaminasemia disclosing a muscular disease].

Prolonged increase in serum transaminase activity is usually seen in chronic liver disease. Evaluation in one patient with such a prolonged increase having no evidence of liver disease including histological examination, revealed a limb girdle muscular dystrophy. This case suggests that a muscular disease should be suspected in all children with persistent increase in serum transaminase activity when the liver is apparently normal.

Child, Preschool↗
PubMed1971

[Muscular diseases].

Explore the source record for details and available documents.

Cholinesterase Inhibitors↗
PubMed1975

Correction of severe open-bite associated with muscular disease. Report of a case.

A 14-year-old boy presented with a severe open-bite and arch collapse associated with muscular disease. Multiple osteotomies of the maxilla and mandible with autogenous bone grafting were used for surgical closure of the open-bite. A satisfactory and stable skeletal result was achieved. The patient was then referred for orthodontic therapy to achieve a better dental interdigitation and maintenance of the newly created relationship. In severe cases of open-bite multiple osteotomies of the mandible and maxilla may need to be performed in order to accomplish the desired results. These same results may not be ach ieved by any single surgical procedure. The relationship between severe open-bite and muscle diseases needs to be further established. Once these etiologic factors are known, steps could perhaps be taken to alter the maldevelopment of the facial skeleton. Until this happens, the symptoms are best treated by a combination of surgical and orthodontic intervention.

Adolescent↗
PubMed2005

Proteolysis of beta-dystroglycan in muscular diseases.

Alpha-dystroglycan is a cell surface peripheral membrane protein which binds to the extracellular matrix (ECM), while beta-dystroglycan is a type I integral membrane protein which anchors alpha-dystroglycan to the cell membrane via the N-terminal extracellular domain. The complex composed of alpha-and beta-dystroglycan is called the dystroglycan complex. We reported previously a matrix metalloproteinase (MMP) activity that disrupts the dystroglycan complex by cleaving the extracellular domain of beta-dystroglycan. This MMP creates a characteristic 30 kDa fragment of beta-dystroglycan that is detected by the monoclonal antibody 43DAG/8D5 directed against the C-terminus of beta-dystroglycan. We also reported that the 30 kDa fragment of beta-dystroglycan was increased in the skeletal and cardiac muscles of cardiomyopathic hamsters, the model animals of sarcoglycanopathy, and that this resulted in the disruption of the link between the ECM and cell membrane via the dystroglycan complex. In this study, we investigated the proteolysis of beta-dystroglycan in the biopsied skeletal muscles of various human muscular diseases, including sarcoglycanopathy, Duchenne muscular dystrophy (DMD), Becker muscular dystrophy, Fukuyama congenital muscular dystrophy, Miyoshi myopathy, LGMD2A, facioscapulohumeral muscular dystrophy, myotonic dystrophy and dermatomyositis/polymyositis. We show that the 30 kDa fragment of beta-dystroglycan is increased significantly in sarcoglycanopathy and DMD, but not in the other diseases. We propose that the proteolysis of beta-dystroglycan may contribute to skeletal muscle degeneration by disrupting the link between the ECM and cell membrane in sarcoglycanopathy and DMD.

Adolescent↗