CHAT

Congenital myasthenic syndrome

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

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