نتایج جستجو برای: myopathy
تعداد نتایج: 12241 فیلتر نتایج به سال:
Although not initially recognized when there were few long-term survivors with cystinosis, the use of renal transplantation in the 1960s permitted observation of a number of additional clinical disabilities, as patients with nephropathic cystinosis survived past young childhood for the first time. Among these, serious distal myopathy has emerged as a significant problem of early adulthood in un...
Apoptotic cell death of differentiated skeletal muscle has been reported in an experimental steroidinduced myopathy of rats. To investigate the underlying molecular changes in the apoptosis of skeletal muscle, in situ end labeling (ISEL), Fas expression, and Western blot analysis for apoptosis-related proteins in the soleus muscle of triamcinolone acetonide (TA)-induced myopathy of rats were st...
Mutations in the gene encoding skeletal muscle alpha-actin (ACTA1) account for approx. 20% of patients with the muscular disorder nemaline myopathy. Nemaline myopathy is a muscular wasting disease similar to muscular dystrophy, but distinguished by deposits of actin and actin-associated proteins near the z-line of the sarcomere. Approx. one-third of the over 140 myopathy actin mutations have be...
In chronic heart failure (HF) from systolic cardiac dysfunction, the degree of exercise intolerance is not directly related to the degree of cardiac weakness.1–5 Somewhat surprisingly symptoms that typify HF, including shortness of breath and fatigue, are often directly related to the abnormalities of the skeletal musculature in HF. Our understanding of the features of skeletal myopathy is evol...
OBJECTIVE To show cancer association is a risk factor other than statin exposure for anti-3-hydroxy-3-methylglutaryl coenzyme A reductase autoantibody-positive (anti-HMGCR Ab+) myopathy. METHODS We analyzed the clinical features and courses of 33 patients (23 female and 10 male) with anti-HMGCR Ab+ myopathy among 621 consecutive patients with idiopathic inflammatory myopathies. RESULTS Amon...
BACKGROUND GNE myopathy is a rare genetic disease characterized by progressive muscle atrophy and weakness. It is caused by biallelic mutations in the GNE gene that encodes for the bifunctional enzyme, uridine diphosphate (UDP)-N-acetylglucosamine (GlcNAc) 2-epimerase/N-acetylmannosamine (ManNAc) kinase. Typical characteristics of GNE myopathy include progressive myopathy, first involving anter...
X-linked myotubular myopathy (XLMTM) is a congenital neuromuscular disorder characterized by profound hypotonia and severe skeletal muscle weakness in the affected newborn males. The pathology is associated with mutations in the MTM1 gene leading to loss of function of the resulting encoded protein, myotubularin. Myotubularin is a phosphoinositol lipid phosphases known to be involved in endosom...
Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder of neutral lipid metabolism. Clinical manifestations include progressive skeletal myopathy, cardiomyopathy, and liver dysfunction. Clinical severity is variable and additional symptoms may include diabetes mellitus, chronic pancreatitis, hypothyroidism, neurosensory hearing loss, and short stature. We rep...
Bethlem myopathy is an early-onset benign autosomal dominant myopathy with contractures caused by mutations in collagen type VI genes. It has been reported that onset occurs in early childhood. We investigated the natural course of Bethlem myopathy in five previously published kindreds and two novel pedigrees, with particular attention to the mode of onset in 23 children and the progression of ...
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