نتایج جستجو برای: congenital myopathy
تعداد نتایج: 131548 فیلتر نتایج به سال:
BACKGROUND Nemaline myopathy-the most common non-dystrophic congenital myopathy-is caused by mutations in thin filament genes, of which the nebulin gene is the most frequently affected one. The nebulin gene codes for the giant sarcomeric protein nebulin, which plays a crucial role in skeletal muscle contractile performance. Muscle weakness is a hallmark feature of nemaline myopathy patients wit...
INTRODUCTION Congenital myopathies (CM) often affect contractile proteins of the sarcomere, which could render patients susceptible to exercise-induced muscle damage. We investigated if exercise is safe and beneficial in patients with CM. METHODS Patients exercised on a stationary bike for 30 minutes, three times weekly, for 10 weeks at 70% of their maximal oxygen uptake (VO2max). Creatine ki...
From the Departments of Pediatrics, Radiology anid Pathology, University of Minnesota, Minnieapolis, Minnesota, and the Department of Pathology, The Chlirles T. Miller h-lospitail, St. Panl, Minnesota. This study wx as supported hy Researel Grant HE 5694 and Research Training Grant 5T1-HE .5570 from the National Heart Institute, National Institutes of fHeailth, U. S. Publie Health Service. Dr. ...
Parallel with the clinical and histochemical investigations, an ultrastructural examination of a muscle biopsy specimen was made, in order to detect any slight cellular alterations which cannot possibly be discovered through any other methods, and to identify a muscle disease of unknown origin.
It has been increasingly apparent in recent years that in addition to cases which fall into recognizable categories of muscle disease, a number of less common disorders occur from time to time which do not correspond to the accepted descriptions. Some of these appear to be metabolic in origin and can be elucidated, at least in part, by modern methods of investigation (McArdle, 1951) while other...
INTRODUCTION Nemaline myopathy is a rare disorder characterized by skeletal muscle weakness of varying severity and onset, with the presence of nemaline rods on muscle biopsy. Congenital nemaline body myopathy due to mutations in TNNT1 has hitherto only been described as a result of a single founder mutation in patients of Amish origin and in 2 other individuals with different recessive mutatio...
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