Journal article
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies
HP Lo, E Bertini, M Mirabella, A Domazetovska, RC Dale, S Petrini, A D'Amico, EM Valente, R Barresi, M Roberts, G Tozzi, G Tasca, ST Cooper, V Straub, KN North
Neuromuscular Disorders | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2011
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 sta..
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Awarded by French Muscular Dystrophy Association
Funding Acknowledgements
The authors thank the patients for participation in this study, and Dr. John Watson for referring patient 1. This work has been supported by grants from the Australian National Health and Medical Research Council (KN North and ST Cooper #301946; KN North #403941 and HP Lo #206527). E. Bertini was supported by a grant from the Italian Ministry of Health and by the TREAT-NMD European Grant No. ISTRIPQA1. The Newcastle Muscle Centre is supported by the Muscular Dystrophy Campaign and the Diagnostic and Advisory Service for Rare Neuromuscular Diseases is funded by the NHS National Commissioning Group.