Congenital myopathies: general and ryr1

Lately, a syndrome with myalgia and rhabdomyolysis and variants in the ryanodine receptor 1 gene (RYR1) has been described. Index patients typically present with rhabdomyolysis induced by exercise, however, we and others have observed pronounced variability of symptoms among index patients with different variants in RYR1. RYR1 is a large gene and many different variants have been related to the myalgia-rhabdomyolysis syndrome. Some of these variants have a surprisingly high allele frequency in the background population.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research