نتایج جستجو برای: brody myopathy
تعداد نتایج: 12892 فیلتر نتایج به سال:
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 ...
A 13 year old Greek girl with myasthenia gravis developed widespread muscle paralysis and atrophy after large parenteral doses of corticosteroids (5.48 g methylprednisolone). An electromyogram showed myopathy, creatine kinase concentration below normal, and a muscle biopsy showed severe myopathy with selective loss of the thick filaments (myosin). Previous reports of myopathy associated with la...
BACKGROUND Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple ot...
We present a case of a 9-year-old boy with nemaline myopathy and dilated cardiomyopathy. The combination of nemaline myopathy and cardiomyopathy is rare, and this is the first reported case of dilated cardiomyopathy associated with childhood-onset nemaline myopathy. A novel mutation, p.W358C, in ACTA1 was detected in this patient. An unusual feature of this case was that the patient's cardiac f...
Possible Role of the Heart Rate for the ECG Amplitude according to the Brody Effect of Athletes and Controls H.J. Koch Dr. med. H.J. Koch Lautengasse 19 D-W-7900 Ulm (FRG) Dear Sir, In their interesting article Stor-stein et al. [ 1 ] found that there is an obvious relation between heart rate and ECG amplitudes. Apart from the anatomical configuration of the chest region, it may be advantageous...
The existence of gifted students who have learning difficulties has been well documented (Brody & Mills, 1997; Dix & Schafer, 1996; Ellston, 1993 ; Fetzer, 2000; Hishinuma & Tadaki, 1996; Rivera, Murdock, & Sexton, 1995). These students display a learning capacity that is characteristic of students who are gifted, in parallel with a specific learning disability in areas of academic performance ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید