Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle.
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.
Mizuno
Y
Y
National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
Noguchi
S
S
Yamamoto
H
H
Yoshida
M
M
Suzuki
A
A
Hagiwara
Y
Y
Hayashi
Y K
YK
Arahata
K
K
Nonaka
I
I
Hirai
S
S
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
D003598:Cytoskeletal Proteins; D016189:Dystrophin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans