title: Acetylcholine receptor antibodies in patients with genetic myopathies: clinical and biological significance.
abstract: We report two patients with facioscapulohumeral muscular dystrophy (FSHD) presenting with atypical clinical features. Both were found to have antibodies to acetylcholine receptor (AChR-abs) and improved with immunosuppression. AChR-abs have also been reported in patients with other genetic myopathies and it is unlikely that the association is coincidental. There is increasing evidence that muscle fibre degeneration can cause innate immune responses (autoinflammation) that may lead to the breaking of immune tolerance and the generation of autoantibodies to muscle proteins. We compare and contrast this process with the pathogenesis of archetypical myasthenia gravis.
authors.affiliation: Charing Cross Hospital, Imperial College London, United Kingdom. r.lane@imperial.ac.uk
authors.forename: Russell J M
authors.initials: RJ
authors.lastname: Lane
authors.forename: Federico
authors.initials: F
authors.lastname: Roncaroli
authors.forename: Peter
authors.initials: P
authors.lastname: Charles
authors.forename: Dennis G
authors.initials: DG
authors.lastname: McGonagle
authors.forename: Richard W
authors.initials: RW
authors.lastname: Orrell
mesh_terms: D000328:Adult; D001323:Autoantibodies / Q000276:immunology*; D005260:Female; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000276:immunology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology*; D011950:Receptors, Cholinergic / Q000276:immunology*
chemical_list: D001323:Autoantibodies; D009124:Muscle Proteins; D011950:Receptors, Cholinergic