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GTR Home > Conditions/Phenotypes > Congenital myasthenic syndrome 13

Congenital myasthenic syndrome 13

Synonyms
Myasthenic syndrome, congenital, 13, with tubular aggregates; Myasthenic syndrome, congenital, with tubular aggregates 2

Summary

Congenital myasthenic syndrome-13 (CMS13) is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Belaya et al., 2012). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Available tests

45 tests are in the database for this condition.

Clinical tests (45 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALG7, CDG-Ij, CDG1J, CMS13, CMSTA2, D11S366, DGPT, DPAGT, DPAGT2, G1PT, GPT, UAGT, UGAT, DPAGT1
    Summary: dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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