title: Autosomal dominant centronuclear myopathy: report of a new family with clinical features simulating facioscapulohumeral syndrome.
abstract: The centronuclear myopathies are a clinically and genetically heterogeneous group of disorders which share similar histological features on muscle biopsy. The familial cases have been classified genetically as X-linked or autosomal in inheritance. The autosomal forms usually have a later onset and milder course as compared to the X-linked form. Thirteen families with autosomal dominant centronuclear myopathy have been previously described. We describe an additional family with unique clinical features which initially suggested a facioscapulohumeral syndrome.
authors.affiliation: Department of Neurology, University of Connecticut School of Medicine, Farmington 06030-1845, USA.
authors.forename: K J
authors.initials: KJ
authors.lastname: Felice
authors.forename: M L
authors.initials: ML
authors.lastname: Grunnet
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D002875:Chromosomes; D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D009136:Muscular Dystrophies / Q000175:diagnosis*