title: A rapidly progressive adolescent-onset oculopharyngeal somatic syndrome with rimmed vacuoles in two siblings.
abstract: We describe 2 Greek siblings who developed a rapidly progressive oculopharyngeal somatic syndrome, at the ages of 11 and 14 years, with muscle biopsies showing rimmed vacuoles and, in 1 case, cytoplasmic and intranuclear tubulofilamentous inclusions 25 nm in diameter. Although a similar pattern of muscle involvement with rimmed vacuoles is described in autosomal dominant oculopharyngeal muscular dystrophy, the age of onset, the rapid progression of the symptoms, and the nature of the tubulofilaments distinguish this as a separate entity.
authors.affiliation: Department of Clinical Neurology, Institute of Neurology, London, UK.
authors.forename: M R
authors.initials: MR
authors.lastname: Rose
authors.forename: D N
authors.initials: DN
authors.lastname: Landon
authors.forename: A
authors.initials: A
authors.lastname: Papadimitriou
authors.forename: J A
authors.initials: JA
authors.lastname: Morgan-Hughes
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001706:Biopsy; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure; D009136:Muscular Dystrophies / Q000473:pathology*; D009801:Oculomotor Muscles; D010609:Pharyngeal Muscles; D013577:Syndrome