نتایج جستجو برای: scn4a
تعداد نتایج: 166 فیلتر نتایج به سال:
OBJECTIVE We performed a clinical, functional, and pharmacologic characterization of the novel p.P1158L Nav1.4 mutation identified in a young girl presenting a severe myotonic phenotype. METHODS Wild-type hNav1.4 channel and P1158L mutant were expressed in tsA201 cells for functional and pharmacologic studies using patch-clamp. RESULTS The patient shows pronounced myotonia, slowness of move...
Non-dystrophic myotonias (NDM) are rare muscle disorders caused by mutations in skeletal voltage-gated channels leading to delayed relaxation after voluntary contraction. They subdivided into sodium channelopathies, when the mutation is SCN4A gene, and chloride CLCN1 gene. Symptoms, which may differ according subtype, exacerbating factors, over disease course, can include stiffness, pain, fatig...
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