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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-01-2016
Symbol CMS19
Location 10q22.1
Name congenital myasthenic syndrome, 19
Corresponding gene COL13A1
Main clinical features
  • resulting from a defect in the neuromuscular junction
  • generalized muscle weakness, exercise intolerance, and respiratory insufficiency
  • hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable
  • facial dysmorphism including micrognatia, low-set ears, and a high-arched palate, in addition to skeletal abnormalities such as pectus carinatum and marked bilateral pes cavus; no response to treatment with pyridostigmine
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease