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Biochemistry of muscle membranes in Duchenne muscular dystrophy

 

作者: Lewis P. Rowland,  

 

期刊: Muscle&Nerve  (WILEY Available online 1980)
卷期: Volume 3, issue 1  

页码: 3-20

 

ISSN:0148-639X

 

年代: 1980

 

DOI:10.1002/mus.880030103

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

数据来源: WILEY

 

摘要:

AbstractIn Duchenne muscular dystrophy, as in other genetic diseases, there must be a biochemical abnormality. This fundamental genetic fault has not been identified, but several indirect lines of evidence suggest that the surface membranes of skeletal muscle are affected. The biochemical evidence implies abnormal egress of soluble enzymes and other proteins from muscle, abnormal permeability, and altered properties of membrane‐bound enzymes. As a result of the presumed genetic abnormality, functional properties are altered, and impaired regulation of intracellular calcium content could be responsible for the hallmarks of the disease—progressive weakness and degeneration of muscle. The evidence is by no means conclusive, however, and some of it is contradictory. Technical advances must be made before isolated membranes can be characterized biochemically. Other theories are also being evalua

 

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