Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy.
The absence of dystrophin causes Duchenne muscular dystrophy. Dystrophin is associated with a large complex of sarcolemmal glycoproteins which provides a linkage to the extracellular matrix component, laminin, and when dystrophin is absent all the dystrophin-associated proteins are much reduced. We report here that dystrophin-associated proteins have abnormally low expression in Fukuyama-type congenital muscular dystrophy (FCMD), despite near-normal expression of dystrophin. An abnormality of dystrophin-associated proteins in the sarcolemma seems to be a common denominator in the pathological processes leading to muscle cell necrosis in three forms of severe muscular dystrophy (Duchenne, Japanese Fukuyama-type, and north African Duchenne-like autosomal recessive).
Matsumura
K
K
Howard Hughes Medical Institute, Iowa City, IA.
Nonaka
I
I
Campbell
K P
KP
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000032:analysis*; D049030:Dystroglycans; D016189:Dystrophin / Q000032:analysis; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009132:Muscles / Q000737:chemistry*; D009136:Muscular Dystrophies / Q000151:congenital / Q000378:metabolism*; D049411:Utrophin
D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D016189:Dystrophin; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D049411:Utrophin; D049030:Dystroglycans