CHRNE

Gene name: cholinergic receptor, nicotinic, epsilon (muscle)
OMIM ID: 100725
Chromosome location: 17p13.2

Mutations

Disease/Phenotype	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency
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.

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