The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa

@article{Richard2008TheC1,
  title={The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa},
  author={P. Richard and K. Gaudon and H. Haddad and A. Ammar and E. G{\'e}nin and S. Bauch{\'e} and M. Paturneau-Jouas and J. Müller and H. Lochm{\"u}ller and D. Grid and A. Hamri and S. Nouioua and M. Tazir and M. Mayer and C. Desnuelle and A. Barois and B. Chabrol and J. Pouget and J. Koenig and N. Gouider-Khouja and F. Hentati and B. Eymard and D. Hantaı̈},
  journal={Neurology},
  year={2008},
  volume={71},
  pages={1967 - 1972}
}
Objective: Mutations in various genes of the neuromuscular junction cause congenital myasthenic syndrome (CMS). A single truncating mutation (ε1293insG) in the acetylcholine receptor epsilon subunit gene (CHRNE) was most often identified in CMS families originating from North Africa and was possibly a founder mutation. Methods: Twenty-three families were studied with an early onset form of CMS and originating from Tunisia, Algeria, Morocco, and Libya. Screening for the mutation ε1293insG was… Expand
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Congenital myasthenic syndromes
Congenital myasthenic syndromes
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