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Biochemistry of Duchenne muscular dystrophy 

Biochemistry of Duchenne muscular dystrophy
Chapter:
Biochemistry of Duchenne muscular dystrophy
Author(s):

Alan E H Emery

, Francesco Muntoni

, and Rosaline Quinlivan

DOI:
10.1093/med/9780199681488.003.0007
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date: 22 August 2019

The literature on the biochemistry of muscular dystrophy is overwhelming. It could be argued that, now that the primary defect has been identified in DMD and shown to be a deficiency of muscle dystrophin, it is irrelevant to approach an understanding of the pathogenesis through the findings of conventional biochemistry. The authors feel that molecular and biochemical studies could complement each other. What has been learned so far concerning biochemical changes in dystrophic muscle and how these relate to the deficiency of dystrophin will doubtless fill in details of how the disease process starts and progresses, and why it affects some muscles more than others. It is also conceivable that the more we know of the detailed pathogenesis of DMD, the more we may understand these processes in other muscular dystrophies. With such details, it may be possible to better consider a rational approach to any drug therapy.

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