title: Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.
abstract: Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. Through positional cloning, we identified the gene for FCMD and MEB, which encodes the fukutin protein and the protein O-linked mannose beta1, 2-N-acetylglucosaminy ltransferase (POMGnT1), respectively. Recent studies have revealed that posttranslational modification of alpha-dystroglycan is associated with these congenital muscular dystrophies with brain malformations. In this review Fukuyama-type congenital muscular dystrophy (FCMD), other CMDs with brain malformations, and their relation with alpha-dystroglycan are discussed.
authors.affiliation: Division of Functional Genomics, Department of Post-Genomics and Diseases, Osaka University Graduate School of Medicine, Suita, Osaka 565-0871, Japan. toda@clgene.med.osaka-u.ac.jp
authors.forename: Tatsushi
authors.initials: T
authors.lastname: Toda
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Satoshi
authors.initials: S
authors.lastname: Takeda
authors.forename: Junko
authors.initials: J
authors.lastname: Sasaki
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kurahashi
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kano
authors.forename: Masaji
authors.initials: M
authors.lastname: Tachikawa
authors.forename: Fan
authors.initials: F
authors.lastname: Wang
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Nagai
authors.forename: Kiyomi
authors.initials: K
authors.lastname: Taniguchi
authors.forename: Mariko
authors.initials: M
authors.lastname: Taniguchi
authors.forename: Yoshihide
authors.initials: Y
authors.lastname: Sunada
authors.forename: Toshio
authors.initials: T
authors.lastname: Terashima
authors.forename: Tamao
authors.initials: T
authors.lastname: Endo
authors.forename: Kiichiro
authors.initials: K
authors.lastname: Matsumura
mesh_terms: D000818:Animals; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002874:Chromosome Mapping; D003598:Cytoskeletal Proteins / Q000378:metabolism*; D004195:Disease Models, Animal; D049030:Dystroglycans; D005260:Female; D006031:Glycosylation; D006801:Humans; D008562:Membrane Glycoproteins / Q000378:metabolism*; D008565:Membrane Proteins; D051379:Mice; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D011506:Proteins / Q000378:metabolism; D014166:Transferases
chemical_list: D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; C113587:FKTN protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D011506:Proteins; D049030:Dystroglycans; C491879:Fcmd protein, mouse; D014166:Transferases