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GTR Home > Conditions/Phenotypes > Congenital myasthenic syndrome 14

Congenital myasthenic syndrome 14

Synonyms
Myasthenic syndrome, congenital, 14, with tubular aggregates

Summary

Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by Cossins et al., 2013). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Available tests

28 tests are in the database for this condition.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1I, CDGIi, CMS14, CMSTA3, NET38, hALPG2, ALG2
    Summary: ALG2 alpha-1,3/1,6-mannosyltransferase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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