title: Laminin-alpha2 (merosin), beta-dystroglycan, alpha-sarcoglycan (adhalin), and dystrophin expression in congenital muscular dystrophies: an immunohistochemical study.
abstract: Muscle biopsies of 13 congenital muscular dystrophy (CMD) patients were investigated for the expression of laminin-alpha2 (merosin), beta-dystroglycan, alpha-sarcoglycan (adhalin) and dystrophin. Expression of these proteins was normal in six out of eight patients with pure-CMD, in three non-Japanese patients clinically resembling Fukuyama-CMD (F-CMD), and in two patients with Walker-Warburg syndrome (WWS). The two 'pure'-CMD patients with white matter hypodensity showed severely decreased laminin-alpha2 expression and normal expression of the other proteins. Our findings in the non-Japanese patients, clinically resembling F-CMD, are different from those in Japanese cases with F-CMD in the literature. Consequently, our patients suffer from WWS or from another yet undetermined form of CMD.
authors.affiliation: Institute of Neurology, University Hospital Nijmegen, The Netherlands.
authors.forename: H J
authors.initials: HJ
authors.lastname: ter Laak
authors.forename: Q H
authors.initials: QH
authors.lastname: Leyten
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: H
authors.initials: H
authors.lastname: Kuppen
authors.forename: W O
authors.initials: WO
authors.lastname: Renier
authors.forename: R C
authors.initials: RC
authors.lastname: Sengers
mesh_terms: D001485:Basement Membrane / Q000737:chemistry; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000096:biosynthesis*; D049030:Dystroglycans; D016189:Dystrophin / Q000096:biosynthesis*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007231:Infant, Newborn; D007797:Laminin / Q000096:biosynthesis*; D008297:Male; D008562:Membrane Glycoproteins / Q000096:biosynthesis*; D018482:Muscle, Skeletal / Q000737:chemistry; D009136:Muscular Dystrophies / Q000151:congenital / Q000378:metabolism*; D049031:Sarcoglycans
chemical_list: D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D016189:Dystrophin; D007797:Laminin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans; D049030:Dystroglycans