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Potassium aggravated myotonia

Known as: Sodium Channel Myotonia, MYOTONIA, POTASSIUM-AGGRAVATED, MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVE 
A group of autosomal dominant inherited non-dystrophic myotonias caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy… 
National Institutes of Health

Papers overview

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Highly Cited
2005
Highly Cited
2005
We investigated the interactions between human monocyte-derived dendritic cells (DCs) and Ag-activated circulating TCR-gammadelta… 
1998
1998
Clinical, electrophysiological, and molecular genetic features were investigated in two patients from a family a with dominantly… 
Highly Cited
1984
Highly Cited
1984
Secretion of peptidyl-glycine alpha-amidating monooxygenase (PAM) activity and enkephalin convertase (a carboxypeptidase B-like… 
Highly Cited
1979
Highly Cited
1979
In an investigation of the mechanism of insulinresistance in myotonia dystrophica, insulin binding to circulatingmononuclear… 
Highly Cited
1973
Highly Cited
1973
Myotonia induced in rats by 20,25-diazacholesterol is accompanied by accumulation of desmosterol in serum, fragmented… 
Highly Cited
1966
Highly Cited
1966
Histochemical analysis of muscle biopsies from patients with myotonic disorders both confirms abnormalities that are observed by… 
Highly Cited
1965
Highly Cited
1965
Abstract Treatment of 41 hypercholesterolemic patients with the cholesterol-lowering agent, diazacholesterol, an analogue of…