نتایج جستجو برای: brody myopathy
تعداد نتایج: 12892 فیلتر نتایج به سال:
OBJECTIVES Arrhythmogenic right ventricular dysplasia (ARVD) is a rare, genetic disorder predominantly affecting the right ventricle. There is increasing evidence that in some cases, ARVD is due to mutations in genes, which have also been implicated in primary myopathies. This review gives an overview about myopathy-associated ARVD and how these patients can be managed. METHODS A literature r...
This corrects the article "Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy" on page 127.
A 57 year old female presented with an amyloid myopathy in association with lambda light chain myeloma. Treatment with melphalan and prednisolone resulted in remission of both myeloma and myopathy.
The authors describe familial tubular aggregate myopathy associated with abnormal pupils. Four family members from two generations had myopathy and pupillary abnormalities. The myopathologic findings consisted of tubular aggregates in many fibers but predominantly type I fibers.
In a patient receiving regular dialysis prolonged hypophosphataemia due to aluminium hydroxide therapy resulted in osteomalacia and severe proximal myopathy. Both osteomalacia and myopathy responded to correction of hypophosphataemia without vitamin D therapy.
Resumen Introducción Los cambios o deficiencias estructurales y/o funcionales que presentan las personas con discapacidad pueden limitar comprometer su interacción, para la realización el cumplimiento de actividades personales sociales, convirtiéndolas entonces en vulnerables. Para evaluación, terapeuta ocupacional debe valorar varios factores ser considerados como riesgo mayor vulnerabilidad c...
OBJECTIVE Distal myopathy is a heterogeneous group of muscle diseases characterized by predominant distal muscle weakness. A study was done to identify the underlying cause of autosomal recessive adolescent onset distal myopathy. METHODS Four patients from 2 unrelated Korean families were evaluated. To isolate the genetic cause, exome sequencing was performed. In vitro and in vivo assays usin...
Academic Dissertation To be publicly discussed with permission of the Medical Faculty of the University of Helsinki, in the small lecture hall of the Haartman Institute, This thesis is based on the following original articles, which are referred to in the text by their Roman numerals. In addition, some unpublished data are presented. Secondary calpain3 deficiency in 2q-linked muscular dystrophy...
Three cases of hypophosphataemic osteomalacia presenting in adult life, in which a myopathy was a prominent presenting feature, are described. In one, a nasopharyngeal haemangioma was also present. Possible mechanisms underlying the myopathy are discussed briefly.
Statins are widely used drugs to lower cholesterol levels and to reduce the risk of cardiovascular disease. However, it has been reported that statins are associated with adverse side effects of skeletal myopathy. Statin treatment can impair mitochondrial function and induce apoptosis in skeletal muscle in both human and animal models. Ubiquinone plays an essential role in transferring electron...
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