title: Fukuyama muscular dystrophy associated with lack of C-terminal domain of dystrophin.
abstract: The first reported female patient with the Fukuyama type of congenital muscular dystrophy associated with a lack of C-terminal domain of dystrophin is presented. Clinically, the patient had characteristic features and magnetic resonance imaging findings of Fukuyama muscular dystrophy. Dystrophin analysis revealed a lack of the C-terminal domain but preserved N-terminal and rod domains of dystrophin in biopsied muscle. Moreover, she had reduced expression of merosin, syntrophin, and beta-dystroglycan in the skeletal muscle. Reverse transcriptase-polymerase chain reaction analysis of mRNA in the patient's muscle illustrated a complete lack of exons 71-74 of the dystrophin gene. These deletions, which remove the beta-dystroglycan and syntrophin binding site, may cause changes in the function of both beta-dystroglycan and syntrophin in human muscle.
authors.affiliation: School of Health Sciences, Sapporo Medical University, S1 W16 Chuo-ku, Sapporo 060, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Tachi
authors.forename: S
authors.initials: S
authors.lastname: Chiba
authors.forename: M
authors.initials: M
authors.lastname: Matsuo
authors.forename: K
authors.initials: K
authors.lastname: Matsumura
authors.forename: K
authors.initials: K
authors.lastname: Saito
mesh_terms: D000429:Alcohol Oxidoreductases; D001706:Biopsy; D001921:Brain / Q000002:abnormalities*; D002869:Chromosome Aberrations / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D003598:Cytoskeletal Proteins / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D049030:Dystroglycans; D016189:Dystrophin / Q000235:genetics*; D049029:Dystrophin-Associated Proteins; D005091:Exons; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008562:Membrane Glycoproteins / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D009124:Muscle Proteins / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010750:Phosphoproteins / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D004268:DNA-Binding Proteins; D016189:Dystrophin; D049029:Dystrophin-Associated Proteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009124:Muscle Proteins; D010750:Phosphoproteins; D012333:RNA, Messenger; C091824:syntrophin; D049030:Dystroglycans; D000429:Alcohol Oxidoreductases; C096794:C-terminal binding protein