نتایج جستجو برای: paralysis periodica paramyotonia
تعداد نتایج: 21310 فیلتر نتایج به سال:
Four generations of a Chinese family with a mild form of paramyotonia congenital was characterized in phenotype and genotype. For each member, clinical history, physical examination, laboratory tests, electrophysiological and gene analyses were recorded and carried out. A potassium loading, exercise and cold provocation were further tested to diagnose the clinical differentiation. All members s...
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...
Mutations in the gene encoding the voltage-gated sodium channel of skeletal muscle (SkM1) have been identified in a group of autosomal dominant diseases, characterized by abnormalities of the sarcolemmal excitability, that include paramyotonia congenita (PC) and hyperkalemic periodic paralysis (HYPP). We previously reported that PC mutations cause in common a slowing of inactivation in the huma...
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