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GENATLAS PHENOTYPE

last update : 12-01-2016

Symbol	CMS2C
Location	17p13.1
Name	myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency
Corresponding gene	CHRNB1
Main clinical features	early-onset muscle weakness with variable severity decremental electromyographic response on stimulation of motor nerves and response partially to acetylcholinesterase inhibitors electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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