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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Expression of apamin receptor in muscles of patients with myotonic muscular dystrophy.

Myotonic muscular dystrophy, or Steinert disease, is a dominantly inherited disease of muscle which occurs with a frequency of between 1 in 18,000 and 1 in 7,500 people (refs 1, 2). One of the prominent clinical manifestations is muscle stiffness and difficulty in relaxation of muscles after voluntary contractions. Electrophysiological signs of myotonia include increased excitability with a tendency to fire trains of repetitive action potentials in response to direct electrical and mechanical stimulation. Most experimental and clinical data suggest that myotonic muscular dystrophy arises from genetically induced alterations of the muscle membrane. We show here for the first time that muscle membranes of patients with myotonic muscular dystrophy contain the receptor for apamin, a bee venom toxin known to be a specific and high-affinity blocker of one class of Ca2+-activated K+ channels in mammalian muscle. The apamin receptor is completely absent in normal human muscle as well as in muscles of patients with spinal anterior horn disorders.[1]

References

  1. Expression of apamin receptor in muscles of patients with myotonic muscular dystrophy. Renaud, J.F., Desnuelle, C., Schmid-Antomarchi, H., Hugues, M., Serratrice, G., Lazdunski, M. Nature (1986) [Pubmed]
 
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