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GENATLAS PHENOTYPE

last update : 07-10-2014

Symbol	PMSN
Location	1q32.1
Name	presynaptic congenital myasthenic syndrome with or without motor neuropathy
Other name(s)	Lambert-Eaton Myasthenic Syndrome congenital myasthenic syndrome 7
Corresponding gene	SYT2
Other symbol(s)	CMS7
Main clinical features	in early childhood with foot deformities, including pes cavus and hammertoes, with variable proximal and distal limb weakness, muscle fatigue that improved with rest, mild gait difficulties, and reduced deep tendon reflexes EMG showed a slight reinnervation of distal muscles, consistent with a motor neuropathy; sensory nerve conduction were normal
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)