title: Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature.
abstract: Rimmed vacuoles (RV) are a characteristic pathological feature in inclusion body myositis, but may also occur in other neuromuscular disorders, such as distal myopathies, oculopharyngeal myopathy, polymyositis, rigid spine syndrome, congenital myopathies, and some limb girdle muscular dystrophies, as well as in various neurogenic diseases. We describe a patient with RV in familial facioscapulohumeral muscular dystrophy (FSHD) associated with an FSHD-typical deletion on chromosome 4q35. Thus, FSHD should be included in the differential diagnosis of neuromuscular disorders with RV.
authors.affiliation: Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, 06097, Halle (Saale), Germany.
authors.forename: Stephan
authors.initials: S
authors.lastname: Neudecker
authors.forename: Michael
authors.initials: M
authors.lastname: Krasnianski
authors.forename: Erik
authors.initials: E
authors.lastname: Bahn
authors.forename: Stephan
authors.initials: S
authors.lastname: Zierz
mesh_terms: D003937:Diagnosis, Differential; D004594:Electrophysiology; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D009154:Mutation; D009468:Neuromuscular Diseases / Q000175:diagnosis; D014617:Vacuoles / Q000473:pathology* / Q000648:ultrastructure*