title: [Immunohistochemical studies of a variant of congenital muscular dystrophy].
abstract: Three Japanese patients from 2 families had a phenotype indistinguishable from that of Fukuyama-type congenital muscular dystrophy (FCMD). A full mutational analysis of the fukutin gene, however, revealed neither a 3 kb insertion (the Japanese founder mutation) nor a point mutation. A RT-PCR analysis of one of the patients revealed a normal expression of the fukutin transcript, suggesting that they have a new variant of CMD. An immunohistochemical analysis of the muscle of one case showed that the immunoreaction to alpha-dystroglycan (DG) was barely detectable on the surface membranes of muscle fibers. Immunoreactions to beta-DG, dystrophin, laminin alpha-2 chain and sarcoglycan were normal. These findings raise the possibility that the abnormality of alpha-DG is integral to the pathology seen in this variant of CMD. Analysis of POMGnT1 gene, which is causative of muscle-eye-brain disease, revealed no mutation in this case.
authors.affiliation: Section of Pediatric Neurology, Kobe City Pediatric and General Rehabilitation Center for the Challenged, Kobe, Hyogo. mieko@mte.biglobe.ne.jp
authors.forename: Mieko
authors.initials: M
authors.lastname: Yoshioka
authors.forename: Kazuma
authors.initials: K
authors.lastname: Sugie
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Tatsushi
authors.initials: T
authors.lastname: Toda
mesh_terms: D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000172:deficiency*; D049030:Dystroglycans; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency*; D008565:Membrane Proteins; D018482:Muscle, Skeletal / Q000378:metabolism; D009136:Muscular Dystrophies / Q000151:congenital* / Q000209:etiology*; D017351:N-Acetylglucosaminyltransferases; D011506:Proteins
chemical_list: D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; C113587:FKTN protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D011506:Proteins; D049030:Dystroglycans; D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase