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end-plate acetylcholinesterase deficiency (congenital myasthenic syndrome type 1C)
Epidemiology: rare
Pathology:
- morphological abnormalities of the neuromuscular junctions
Genetics:
1) autosomal recessive
2) associated with defects in COLQ gene
Clinical manifestations:
1) onset during childhood
2) generalized weakness
3) abnormal fatigability on exertion
Special laboratory:
- decremental electromyographic response
Management:
- refractory to acetylcholinesterase drugs
Related
acetylcholinesterase-associated collagen (acetylcholinesterase collagenic tail peptide, AChE Q subunit, COLQ)
General
myasthenic syndrome (congenital myasthenic syndrome, CMS)
Database Correlations
OMIM 603034
References
OMIM :accession 264300