نتایج جستجو برای: myotonia congenita
تعداد نتایج: 4830 فیلتر نتایج به سال:
Paroxysmal kinesigenic dyskinesia (PKD) is commonly thought to be first described by Kertez.1 However, the typical clinical features of PKD were previously described by Shuzo Kure in a Japanese medical journal in 1892, as reviewed by Kato et al.2 The case described a 23-year-old male who had involuntary movement attacks with onset at 10 years of age that gradually increased in frequency. The at...
Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1:100,000. Studies in mice, dogs, humans and goats confirmed myotonia associated with functional defects in chloride channels and mutations in a skeletal muscle chloride channel (CLCN1). CLCN1 encodes for the m...
Overview All animals are equipped with the capacity for rapid motor response that excitable cells-nerve and muscle-mediate. Voltage-sensitive ion channels on the surface membranes allow the cells to generate brief and reversible alterations of the voltage (action potentials) along the surface of these cellular cables. Ion channels, notably those conducting Na +, Ca 2+, and W, are large proteins...
Although it has been recognized for many years that symptoms and signs indicating disordered function of the voluntary musculature may be prominent in patients with myxoedema, the muscular manifestations of hypothyroidism have received comparatively little attention in the British literature. Recent reviews have, however, been given by Thomasen (1948), Piaggio Blancho and Malosetti (1950), Mill...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید