Congenital myasthenic syndrome
February 10 2016
MUSCLE INVOLVEMENT Recommended panel testing at Breda Genetics for this condition: Congenital myasthenic syndrome (AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, LAMB2, LRP4, MUSK, PLEC, PREPL, RAPSN, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2) Clinical description Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that result from impaired