De Novo CHRNE Mutation: Congenital Myasthenic Syndrome

Congenital myasthenic syndromes (CMS) are neuromuscular hereditary diseases with the symptoms of fatigue, weakness, ptosis, ophthalmoparesis, respiratory problems. This disease group is classified as congenital myasthenic syndromes originating from the presynaptic region, synaptic gap and postsynaptic region according to the origin of the neuromuscular junction. Most of the patients are affected by receptor defects originating from the postsynaptic gap.
Here we presented a case who was thirteen years old and had CHRNE genotype p.Y124 * (c.372C> G) homozygous mutation, which was associated with weakness, low voice, ophthalmoparesis, frequent respiratory infection since birth.
Our patient has compliance with non-kinetic AChR deficiency and the case is important with the detection of a new mutation.Keywords: acetylcholine receptor deficiency, congenital myasthenic syndrome