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GENATLAS PHENOTYPE

last update : 12-01-2016

Symbol	CMSTA2
Location	11q23
Name	congenital myasthenic syndrome with tubular aggregates-2
Other name(s)	congenital myasthenic syndrome 13
Corresponding gene	DPAGT1
Other symbol(s)	CMS13
Main clinical features	difficulty walking and frequent falls, but younger patients showed hypotonia and poor head control; proximal limb muscles were predominantly affected, although some distal muscle groups were also involved age at onset ranged from 0.5 to 7 years
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)