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GENATLAS PHENOTYPE

last update : 12-01-2016

Symbol	CMSTA1
Location	2p13.3
Name	congenital myasthenic syndrome with tubular aggregates-1
Other name(s)	congenital myasthenic syndrome 12
Corresponding gene	GFPT1
Other symbol(s)	CMS12
Main clinical features	neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation onset was in adolescence, with a prominent myasthenic reaction and good response to cholinesterase inhibitors; EMG findings were typical of myasthenia gravis
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)