EP.132Central core myopathy in Chinese patients with Nav1.4 p.R675Q mutation

Nav1.4 (SCN4A) p.R675Q is the most common mutation in Chinese patients with skeletal muscle sodium channelopathies. Two patients with R675Q mutation from different neuromuscular diagnosis centers complained of fixed myopathy and recurrent periodic paralysis. Muscle biopsy on biceps were performed for both patients. Clinical features as well as muscle MRI in bilateral lower limbs were retrospectively reviewed. To further explore the underlying mechanism of the central core-like pathology, we performed the immunofluorescence staining (IF) and western blot of Ryanodine receptor-1 (RYR1) and calcium channel voltage-dependent L-type alpha 1S unit (Cav1.1) using muscle specimens.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research