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GENATLAS PHENOTYPE

last update : 12-01-2016

Symbol	CMS17
Location	11p11.2
Name	myasthenic syndrome, congenital, 17
Corresponding gene	LRP4
Main clinical features	mild ptosis, slight limitation of lateral eye movements, moderately severe proximal greater than distal weakness, and hyporeflexia normal expression of the acetylcholine receptor (AChR) and acetylcholinesterase (AChE), although the total number of AChR per endplate was slightly decreased
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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