A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.

@article{Chevessier2008AMM,
  title={A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.},
  author={F. Chevessier and E. Girard and J. Molg{\'o} and S. Bartling and J. Koenig and D. Hantaı̈ and V. Witzemann},
  journal={Human molecular genetics},
  year={2008},
  volume={17 22},
  pages={
          3577-95
        }
}
In the muscle-specific tyrosine kinase receptor gene MUSK, a heteroallelic missense and a null mutation were identified in a patient suffering from a congenital myasthenic syndrome (CMS). We generated one mouse line carrying the homozygous missense mutation V789M in musk (musk(V789M/V789M) mice) and a second hemizygous line, resembling the patient genotype, with the V789M mutation on one allele and an allele lacking the kinase domain (musk(V789M/-) mice). We report here that musk(V789M/V789M… Expand
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Results strongly suggest that the missense mutation, in the presence of a null mutation on the other allele, is responsible for the dramatic synaptic changes observed in the patient. Expand
Delayed synapsing muscles are more severely affected in an experimental model of MuSK-induced myasthenia gravis
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Analysis of the mutations in the AChR‐clustering protein, rapsyn, show diverse causes for defective A choline receptor localization and suggest that the common mutation rappingyn‐N88K results in A ChR clusters that are less stable than those generated by wild‐type rapsy, which poses further intriguing questions about underlying molecular mechanisms. Expand
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