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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-01-2016
Symbol CMSTA2
Location 11q23
Name congenital myasthenic syndrome with tubular aggregates-2
Other name(s) congenital myasthenic syndrome 13
Corresponding gene DPAGT1
Other symbol(s) CMS13
Main clinical features
  • difficulty walking and frequent falls, but younger patients showed hypotonia and poor head control; proximal limb muscles were predominantly affected, although some distal muscle groups were also involved
  • age at onset ranged from 0.5 to 7 years
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease