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GTR Home > Conditions/Phenotypes > Congenital myasthenic syndrome 12

Congenital myasthenic syndrome 12

Synonyms
MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1; Myasthenia, congenital, 12, with tubular aggregates

Summary

Congenital myasthenic syndrome-12 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 Senderek et al., 2011). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Available tests

40 tests are in the database for this condition.

Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMS12, CMSTA1, GFA, GFAT, GFAT 1, GFAT1, GFAT1m, GFPT, GFPT1L, MSLG, GFPT1
    Summary: glutamine--fructose-6-phosphate transaminase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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