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GENATLAS PHENOTYPE

last update : 12-01-2016

Symbol	CMSP
Location	11p11.2
Name	congenital myasthenic syndrome, post synaptic
Other name(s)	congenital myasthenic syndrome 11
Corresponding gene	RAPSN
Other symbol(s)	CMS1D, FADS, CMS11
Main clinical features	disorders of the neuromuscular junction associated with acetylcholine receptor deficiency, presentation in childhood age with arthrogryposis, ptosis and mild proximal limb weakness antibodies to AChR were absent and response to anticholinesterase inhibitors was favorable.; at EMG a decrement in the CMAP, and at muscle biopsy a decrease in the amplitude of miniature endplate potentials (MEPP) and a reduction in the number of endplate AChR
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
	neurology
Type	disease

Gene product

Name

rapsyn

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		truncated protein	. mutation N88K homozygous or heterozygous for N88K and a second mutation (either L14P, 46insC, or Y269X . mild to moderate myasthenic symptoms with favorable response to anticholinesterase treatment
deletion			Alu-mediated unequal homologous recombination may have caused the deletion

Remark(s)