General Information of Disease (ID: DISSMM4V)

Disease Name Congenital myasthenic syndrome with tubular aggregates
Synonyms myasthenic syndrome, congenital, with tubular aggregates; CMS-TA
Definition A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.
Disease Hierarchy
DIS2BIP8: Congenital nervous system disorder
DISJLG2T: Congenital myasthenic syndrome
DISSMM4V: Congenital myasthenic syndrome with tubular aggregates