Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency
OMIM:608931Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | CHRNE |
|---|---|
| Reference transcript | NM_000080.3 |
| DNA Change | c.1293insG |
| A.A. Change | Frameshift and premature protein truncation |
| Exon/Intron | exon 11 |
| Mutation Type | insertion |
| Reference | Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauch? S, Paturneau-Jouas M, Muller JS, Lochm?ller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hanta? D.The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. Neurology. 2008 Dec 9;71(24):1967-72. |