Muscular dystrophy.
Muscular dystrophy is a group of genetically determined muscular disorders marked by progressive wasting and weakness of the skeletal muscle, but which often affect cardiac and smooth muscles or other tissues. The patterns of inheritance are either dominant or recessive although the gene may be defective because of a new mutation. Growing evidence revealed the marked heterogeneity of the muscle disorders, and considerable numbers of Japanese scientists and physicians have contributed to the research progress in muscular dystrophy. Among these the discovery of an increased serum creatine kinase activity in muscular dystrophy opened the way for the most reliable laboratory test for muscular dystrophy in 1959, and subsequently accelerated progress in a broad range of research areas in medicine. Progress in modern genetics and molecular pathology provided another breakthrough in muscular dystrophy research and, in 1987, dystrophin was identified, a deficiency of which causes DMD. The present review article highlights contributions of Japanese scientists to muscular dystrophy research.
Arahata
K
K
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. arahata@ncnp.gojp
D002154:Calpain / Q000235:genetics / Q000302:isolation & purification; D002462:Cell Membrane / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D003402:Creatine Kinase / Q000097:blood; D016189:Dystrophin / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007564:Japan; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009136:Muscular Dystrophies / Q000201:enzymology / Q000235:genetics*
D016189:Dystrophin; D003402:Creatine Kinase; D002154:Calpain