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GENATLAS PHENOTYPE

last update : 17-01-2015

Symbol	CMSAL2
Location	9q22.33
Name	congenital myasthenic syndrome with ALG2 deficiency
Other name(s)	congenital myasthenic syndrome 14
Corresponding gene	ALG2
Other symbol(s)	CMS14
Main clinical features	limb-girdle pattern of myasthenic weakness associated with acetylcholine receptor deficiency, presentation in childhood age with arthrogryposis, ptosis and mild proximal limb weakness
Genetic determination	not applicable
Function/system disorder	neuromuscular
Type	disease

Remark(s)