title: The spectrum of cytoplasmic body myopathy: report of a congenital severe case.
abstract: A 6-year-old girl presented with a myopathy--she was floppy since birth and developed progressive respiratory failure for which she required mechanical ventilation at age 6 months. Biopsy showed cytoplasmic bodies in about 15% of both type 1 and 2 muscle fibers. Of the 18 cases of cytoplasmic body myopathy (CBM) reported in the literature, 3 had symptoms at birth and in all of them the course was benign. Four clinical patterns emerged; a) congenital severe, b) congenital benign, c) juvenile severe and d) adult severe forms.
authors.affiliation: Department of Pediatrics, Tokyo Metropolitan Neurological Hospital, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Mizuno
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
authors.forename: K
authors.initials: K
authors.lastname: Komiya
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000151:congenital; D009132:Muscles / Q000648:ultrastructure*; D009135:Muscular Diseases / Q000151:congenital* / Q000473:pathology; D012131:Respiratory Insufficiency / Q000209:etiology