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Congenital myasthenic syndrome

ORPHA590
Synonym(s) CMS
Prevalence 1-9 / 1 000 000
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • G70.2
OMIM
UMLS
  • C0751882
MeSH
  • D020294
MedDRA -

Summary

Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.


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Anesthesia guidelines
Article for general public
Clinical genetics review
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