نتایج جستجو برای: myotonia congenita
تعداد نتایج: 4830 فیلتر نتایج به سال:
Although the sodium channel blocker mexiletine is considered the first-line drug in myotonia, some patients experiment adverse effects, while others do not gain any benefit. Other antimyotonic drugs are thus needed to offer mexiletine alternatives. In the present study, we used a previously-validated rat model of myotonia congenita to compare six marketed sodium channel blockers to mexiletine. ...
Jacob Brenner, Chris Oura, Itai Asis, Sushila Maan, Dani Elad, Narender Maan, Orly Friedgut, Kyriaki Nomikou, Ditza Rotenberg, Valizar Bumbarov, Peter Mertens, Hagai Yadin, and Carrie Batten Author affi liations: Kimron Veterinary Institute, Bet Dagan, Israel (J. Brenner, D. Elad, O. Friedgut, D. Rotenberg, V. Bumbarov, H. Yadin); Institute for Animal Health, Pirbright, UK (C. Oura, S. Maan, N....
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
Calcium uptake on muscle microsomal fraction has been investigated in connection with bioelectrical activity in some muscle diseases. The findings showed a significant increase of calcium uptake in denervated muscle, which exhibited spontaneous bioelectrical activity (fibrillations). In myotonias, a low calcium uptake was peculiar to Steinert's disease but not to myotonia congenita. In other mu...
BACKGROUND Paramyotonia congenita (PMC) of von Eulenburg is an autosomal dominant muscular disease characterized by exercise- and cold-induced myotonia and weakness. To date, 18 missense mutations in the adult skeletal muscle sodium channel alpha-subunit (SCN4A) gene have been identified to cause a spectrum of muscular diseases, including PMC of von Eulenburg, PMC without cold paralysis, potass...
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