title: Congenital muscular dystrophy. A study on the variability of morphological changes and dystrophin distribution in muscle biopsies.
abstract: Histomorphological and histochemical variability was studied in muscle specimens from 30 patients with congenital muscular dystrophy (CMD). We found involvement of the central nervous system in 8 patients (Fukuyama CMD, F-CMD), involvement of the brain and the eyes in 5 patients (muscle, eye and brain disease, MEB-D) and hypodense white matter on the CT scans of 2 patients with (sub)normal intelligence (occidental-type cerebromuscular dystrophy, O-CMD). No morphological hallmarks were found to differentiate these subgroups. Only fat cell infiltration was found to be increased with increasing age in 'pure' CMD (pure-CMD). The morphological data did not appear to be correlated with the clinical severity or type of dystrophy (pure-CMD, F-CMD, MEB-D and O-CMD). Immunohistochemistry with dystrophin, vimentin and desmin antibodies in 14 patients (6 pure-CMD, 5 F-CMD, 2 MEB-D and 1 O-CMD) showed a normal expression pattern.
authors.affiliation: Institute of Neurology, University Hospital Nijmegen, The Netherlands.
authors.forename: Q H
authors.initials: QH
authors.lastname: Leyten
authors.forename: H J
authors.initials: HJ
authors.lastname: ter Laak
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: W O
authors.initials: WO
authors.lastname: Renier
authors.forename: K
authors.initials: K
authors.lastname: Renkawek
authors.forename: R C
authors.initials: RC
authors.lastname: Sengers
mesh_terms: D002648:Child; D002675:Child, Preschool; D003893:Desmin / Q000378:metabolism; D016189:Dystrophin / Q000378:metabolism*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D009132:Muscles / Q000378:metabolism* / Q000473:pathology*; D009136:Muscular Dystrophies / Q000151:congenital / Q000378:metabolism* / Q000473:pathology*; D014746:Vimentin / Q000378:metabolism
chemical_list: D003893:Desmin; D016189:Dystrophin; D014746:Vimentin