Myasthenia & related disorders

Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant rare disorder that is caused by mutations in the genes for voltage gated calcium channel CaV1.1 (CACNA1S) and NaV1.4 (SCN4A). Patients with hypoPP may suffer from periodic paralysis alone, periodic paralysis with weakness or permanent weakness. HypoPP has been known to be associated with vacuolar myopathy for decades but the cause of this has not been known. We have investigated a cohort of 14 hypoPP patients with the R528H mutation in the CACNA1S gene for vacuoles and their content.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: T. Krag, S. Holm-Yildiz, N. Witting, J. Vissing Source Type: research