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congenital myasthenic syndrome with tubular aggregates

Disease Summary
Associated Targets (3)
Tchem

2

Tbio

1


Mondo Description A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.
Mondo Term and Equivalent IDs
MONDO:0000182:  congenital myasthenic syndrome with tubular aggregates
DC:0000677: 
OMIMPS:610542: 
UMLS:CN228621: