congenital myasthenic syndrome with acetylcholine receptor (nAChR) deficiency (ACHRDCMS)

Pathology

• post-synaptic congenital myasthenic syndrome
• defects in the nuscle nicotinic acetylcholine receptor cause a 'loss of function'

Genetics

• autosomal recessive
• associated with defects in CHRNE
• associated with defects in RAPSN

More general terms

• myasthenic syndrome (congenital myasthenic syndrome, CMS)
• congenital anomaly (birth defect)

Database

• OMIM: https://mirror.omim.org/entry/608931