title: Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci.
abstract: Myasthenia gravis (MG) is a sporadic autoimmune disorder affecting neuromuscular transmission. Very rarely autoimmune myasthenia gravis may be inherited within a family. We present here the genetic analysis of a Hungarian family where nine members from two generations are affected by myasthenia gravis. Genetic characterisation of this unique Hungarian family using linkage analysis and mutation screening excludes the involvement of defined candidate gene loci. These findings point to familial MG as a separate genetic entity. Identification of the underlying genetic defect in this family may greatly enhance our understanding of the pathogenesis of myasthenia gravis.
authors.affiliation: Department of Molecular Medicine, Karolinska Hospital CMM L8:01, S-171 76 Stockholm, Sweden. fangyuan.li@cmm.ki.se
authors.forename: F
authors.initials: F
authors.lastname: Li
authors.forename: A
authors.initials: A
authors.lastname: Szobor
authors.forename: R
authors.initials: R
authors.lastname: Croxen
authors.forename: V
authors.initials: V
authors.lastname: Anselmo
authors.forename: Q P
authors.initials: QP
authors.lastname: Yuan
authors.forename: K
authors.initials: K
authors.lastname: Lindblad
authors.forename: M
authors.initials: M
authors.lastname: Schalling
authors.forename: S
authors.initials: S
authors.lastname: Komoly
authors.forename: D
authors.initials: D
authors.lastname: Beeson
authors.forename: C
authors.initials: C
authors.lastname: Larsson
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D006814:Hungary; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009157:Myasthenia Gravis / Q000235:genetics* / Q000276:immunology; D010375:Pedigree
chemical_list: D004247:DNA