The <i>CHRNE</i> 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa

Abstract

These results strongly support the hypothesis that epsilon1293insG derives from an ancient single founder event in the North African population. Identification of founder mutations in isolated or inbred populations may have important implications in the context of molecular diagnosis and genetic counseling of patients and families by detection of heterozygous carriers.