title: Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies.
abstract: Inherited rippling muscle disease is an autosomal dominant disorder usually associated with caveolin-3 mutations. Rare cases of acquired rippling muscle disease with abnormal caveolin-3 localisation have been reported, without primary caveolin-3 mutations and in association with myasthenia gravis and acetylcholine receptor autoantibodies, or thymoma. We present three new patients with electrically-silent muscle rippling and abnormal caveolin-3 localisation, but without acetylcholine receptor autoantibodies, or clinical or electrophysiological evidence of myasthenia gravis. An autoimmune basis for rippling muscle disease is supported by spontaneous recovery and normalisation of caveolin-3 staining in one patient and alleviation of symptoms in response to plasmapheresis and immunosuppression in another. These patients expand the autoimmune rippling muscle disease phenotype, and suggest that autoantibodies to additional unidentified muscle proteins result in autoimmune rippling muscle disease.
authors.affiliation: Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, NSW 2145, Sydney, Australia.
authors.forename: Harriet P
authors.initials: HP
authors.lastname: Lo
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Mirabella
authors.forename: Ana
authors.initials: A
authors.lastname: Domazetovska
authors.forename: Russell C
authors.initials: RC
authors.lastname: Dale
authors.forename: Stefania
authors.initials: S
authors.lastname: Petrini
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
authors.forename: Rita
authors.initials: R
authors.lastname: Barresi
authors.forename: Mark
authors.initials: M
authors.lastname: Roberts
authors.forename: Giulia
authors.initials: G
authors.lastname: Tozzi
authors.forename: Giorgio
authors.initials: G
authors.lastname: Tasca
authors.forename: Sandra T
authors.initials: ST
authors.lastname: Cooper
authors.forename: Volker
authors.initials: V
authors.lastname: Straub
authors.forename: Kathryn N
authors.initials: KN
authors.lastname: North
mesh_terms: D000328:Adult; D015703:Antigens, CD / Q000378:metabolism; D001323:Autoantibodies / Q000097:blood*; D051244:Caveolin 3 / Q000235:genetics / Q000378:metabolism*; D004252:DNA Mutational Analysis / Q000379:methods; D016189:Dystrophin / Q000378:metabolism; D005260:Female; D006183:H-2 Antigens / Q000378:metabolism; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000097:blood / Q000378:metabolism / Q000473:pathology; D009157:Myasthenia Gravis / Q000276:immunology* / Q000473:pathology; D011950:Receptors, Cholinergic / Q000276:immunology*; D055815:Young Adult
chemical_list: D015703:Antigens, CD; D001323:Autoantibodies; D051244:Caveolin 3; D016189:Dystrophin; D006183:H-2 Antigens; C078460:H-2K(sm1) antigen; D011950:Receptors, Cholinergic