hypokalemic disease is a disorder in which the amount of serum’ s potassium declines and the patient faces limbs weakness. in this disease, eye muscle and respiratory muscles rarely become involved and death may follow due to respiratory paralysis and heart conducting disturbances. since this disease is treatable and progressive weakness can be prevented, therefore in the study conducted we att...

An important question in the pathophysiology of dominantly inherited diseases, such as channelopathies, is the level of expression of the mutant protein. In our study, we address this issue by comparing the gating defects of two human muscle NaF channel mutants (R1448C and R1448P) causing paramyotonia congenita in native muscle specimens from two patients with those of the same mutant recombina...

OBJECTIVES To implement different sodium (²³Na)-magnetic resonance imaging (MRI) contrasts at 3 Tesla and to evaluate if a weighting toward intracellular sodium can be achieved, using 2 rare muscular channelopathies as model diseases. MATERIALS AND METHODS Both lower legs of 6 patients with hypokalemic periodic paralysis (HypoPP), 5 patients with paramyotonia congenita (PC), and 5 healthy vol...

The linkages between a protein 's primary sequence, three-dimensional structure, and the detailed manifestations of its function are well appreciated. Exploring and understanding these linkages have proven remarkably complex, however. While some functions may be localized exclusively to one protein region, others may be distributed or even diffusely coded in the structure. The kinetics of the t...