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GENATLAS PHENOTYPE

last update : 19-10-2016

Symbol	CMS20
Location	2q12.3
Name	congenital myasthenic syndrome, 20
Corresponding gene	SLC5A7
Main clinical features	presynaptic form, neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth, with muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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