Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci

Myasthenia gravis (MG) is a sporadic autoimmune disorder affecting neuromus cular transmission. Very rarely autoimmune myasthenia. gravis may be inheri ted within a family. We present here the genetic analysis of a Hungarian fa mily where nine members from two generations are affected by myasthenia gra vis. Genetic characterisation of this unique Hungarian family using linkage analysis and mutation screening excludes the involvement of defined candid ate gene loci. These findings point to familial MG as a separate genetic en tity. Identification of the underlying genetic defect in this family may gr eatly enhance our understanding of the pathogenesis of myasthenia gravis.