نتایج جستجو برای: lysosomal myopathy
تعداد نتایج: 27249 فیلتر نتایج به سال:
BACKGROUND Nemaline myopathy is a rare, non progressive congenital skeletal muscle disorder defined by the presence of inclusions known as nemaline rods in muscle fibers. Several clinical subtypes have been described, according to degree of muscle weakness, severity and age at onset. The course of nemaline myopathy is very slowly progressive, and death is usually due to respiratory failure. Car...
We have generated an animal model for mitochondrial myopathy by disrupting the gene for mitochondrial transcription factor A (Tfam) in skeletal muscle of the mouse. The knockout animals developed a myopathy with ragged-red muscle fibers, accumulation of abnormally appearing mitochondria, and progressively deteriorating respiratory chain function in skeletal muscle. Enzyme histochemistry, electr...
INTRODUCTION Paraneoplastic autoantibody screening of 150,000 patient sera by tissue-based immunofluorescence incidentally revealed 170 with unsuspected signal recognition particle (SRP) immunoglobulin G (IgG), which is a recognized biomarker of autoimmune myopathy. Of the 77 patients with available information, 54 had myopathy. We describe the clinical/laboratory associations. METHODS Distin...
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.
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...
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