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GTR Home > Conditions/Phenotypes > Congenital myasthenic syndrome 19

Congenital myasthenic syndrome 19

Summary

Congenital myasthenic syndrome-19 (CMS19) is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Available tests

16 tests are in the database for this condition.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMS19, COLXIIIA1, COL13A1
    Summary: collagen type XIII alpha 1 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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