(Q32140200)

English

congenital myasthenic syndrome 16

congenital myasthenic syndrome that has material basis in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23

  • CMS16
  • congenital myasthenic syndrome acetazolamide-responsive
  • Myasthenic Syndrome, Congenital, Acetazolamide-Responsive
  • congenital myasthenic syndrome type 16
  • MYASTHENIC SYNDROME, CONGENITAL, 16
  • MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16
  • Myasthenic Syndrome, Congenital, type 16

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