title: Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle.
abstract: Dystrophin-associated glycoprotein complex is classified into two subcomplexes: the dystroglycan complex (156DAG and 43DAG) and the sarcoglycan complex (50DAG, A3b, and 35DAG). Severe childhood autosomal recessive muscular dystrophy (SCARMD) was first reported to result from a deficiency of 50DAG. We examined muscles from five SCARMD patients and found that dystrophin and 43DAG were present in almost normal levels while 35DAG and the newly-identified protein A3b in addition to 50DAG were absent or greatly reduced. Therefore, SCARMD is the disease with a selective defect of the sarcoglycan complex.
authors.affiliation: National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Mizuno
authors.forename: S
authors.initials: S
authors.lastname: Noguchi
authors.forename: H
authors.initials: H
authors.lastname: Yamamoto
authors.forename: M
authors.initials: M
authors.lastname: Yoshida
authors.forename: A
authors.initials: A
authors.lastname: Suzuki
authors.forename: Y
authors.initials: Y
authors.lastname: Hagiwara
authors.forename: Y K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: K
authors.initials: K
authors.lastname: Arahata
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: S
authors.initials: S
authors.lastname: Hirai
mesh_terms: D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000032:analysis / Q000172:deficiency*; D016189:Dystrophin / Q000032:analysis; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007564:Japan; D008562:Membrane Glycoproteins / Q000032:analysis / Q000172:deficiency*; D009132:Muscles / Q000737:chemistry*; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism*; D049031:Sarcoglycans
chemical_list: D003598:Cytoskeletal Proteins; D016189:Dystrophin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans