title: A novel insert mutation in gamma-sarcoglycan gene leads to severe childhood autosomal recessive muscular dystrophy.
authors.forename: S
authors.initials: S
authors.lastname: Lin
authors.forename: G P
authors.initials: GP
authors.lastname: Ramelli
authors.forename: H
authors.initials: H
authors.lastname: Moser
authors.forename: S
authors.initials: S
authors.lastname: Gallati
authors.forename: J-M
authors.initials: JM
authors.lastname: Burgunder
mesh_terms: D000595:Amino Acid Sequence / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D002648:Child; D025063:Chromosome Disorders / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D003598:Cytoskeletal Proteins / Q000172:deficiency* / Q000235:genetics*; D004252:DNA Mutational Analysis; D004251:DNA Transposable Elements / Q000235:genetics*; D016189:Dystrophin / Q000378:metabolism; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008562:Membrane Glycoproteins / Q000172:deficiency* / Q000235:genetics*; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D017354:Point Mutation / Q000235:genetics*; D049031:Sarcoglycans
chemical_list: D003598:Cytoskeletal Proteins; D004251:DNA Transposable Elements; D016189:Dystrophin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans