Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Muscle acetylcholinesterase (AChE) in unregulated in animal and human muscular dystrophies and its activity is elevated in plasma of dystrophic chickens, probably due to a leakage from affected muscles. It is possible to measure AChE activity in human plasma in spite of high butyrylcholinesterase activity if acetyl-beta-methylcholine is used as the substrate and butyrylcholinesterase is inhibited by iso-OMPA. It has been found that, unlike in chickens, the plasma AChE activity in human newborns is not higher than that in adults. The AChE activity in plasma of children afflicted by Duchenne muscular dystrophy does not differ from that found in plasma of normal boys of the same age. In this respect Duchenne muscular dystrophy differs from chicken muscular dystrophy as well as from a neurogenic muscle disease (amyotrophic lateral sclerosis) in man.
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PMID:Plasma acetylcholinesterase in Duchenne muscular dystrophy. 684 Feb 42