(Q32139891)

English

congenital myasthenic syndrome 15

congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has material basis in compound heterozygous mutation in the ALG14 gene on chromosome 1p21

  • congenital myasthenic syndrome 15 without tubular aggregates
  • CMS15
  • Myasthenic Syndrome, Congenital, type 15
  • MYASTHENIC SYNDROME, CONGENITAL, 15; CMS15
  • congenital myasthenic syndrome type 15
  • MYASTHENIC SYNDROME, CONGENITAL, 15
  • Myasthenic Syndrome, Congenital, Without Tubular Aggregates

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