Dystrophin: a clinical perspective.
Dystrophin, the protein product of the gene related to Duchenne and Becker muscular dystrophies, is a large cytoskeletal protein associated with the muscle fiber membrane. Recently identified dystrophin-related myopathies affecting animals can serve as experimental models for human disease. Immunologic detection of dystrophin in clinical muscle biopsies provides a direct biochemical test for both Duchenne and Becker muscular dystrophies. Applications of dystrophin testing include improved diagnostic accuracy, carrier detection, fetal diagnosis, and evaluation of asymptomatic male infants identified as a result of neonatal screening for increased serum creatine kinase levels. Identification of dystrophin has brought us to the point of addressing rational therapies.
Wessel
H B
HB
Department of Pediatrics, Children's Hospital of Pittsburg, Pennsylvania 15213.
D004195:Disease Models, Animal; D016189:Dystrophin; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism*
D016189:Dystrophin; D009124:Muscle Proteins