(Q32139904)

English

congenital myasthenic syndrome 7

congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has material basis in heterozygous mutation in the SYT2 gene on chromosome 1q32

  • congenital myasthenic syndrome 7 presynaptic
  • CMS7
  • Myasthenic Syndrome, Presynaptic, Congenital, With or Without Motor Neuropathy
  • congenital myasthenic syndrome type 7
  • MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC; CMS7
  • MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
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