variants as significant predictors of warfarin dose in Emiratis.

Variability in response to warfarin is one of the main obstacles challenging its use in clinical practice. Vitamin K epoxide reductase complex (VKORC) is the target enzyme of warfarin, and variations in the form of single nucleotide polymorphisms (SNPs) in , coding for this enzyme, are known to cause resistance to warfarin treatment. This study aimed to explore variants in Emirati patients receiving warfarin treatment and to correlate their genotypes at the studied SNPs to their maintenance warfarin dose.

Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.

Background: Congenital myasthenic syndromes with end-plate acetylcholinesterase deficiency are rare autosomal recessive disorders characterized by onset of the disease in early childhood, general weakness exacerbated by exertion, ophthalmoplegia, and refractoriness to anticholinesterase drugs. To date, all reported cases have been attributed to mutations in 18 genes including the COLQ gene that encodes a specific collagen that anchors acetylcholinesterase at the basal lamina of the neuromuscular junction. We identified a Syrian family with two children of consanguineous parents from two branches affected with congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency.