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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
General
myasthenic syndrome (congenital myasthenic syndrome, CMS)
congenital anomaly (birth defect)
Database Correlations
OMIM 608931
References
UniProt :accession Q04844