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Metadata
ID DOID:0110660
Name congenital myasthenic syndrome 12
Definition A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.
https://www.ncbi.nlm.nih.gov/pubmed/12467753, https://www.ncbi.nlm.nih.gov/pubmed/21310273
Xrefs

MIM:610542

Synonyms

CMS12 [EXACT]

congenital myasthenia 12 with tubular aggregates [EXACT]

Parent Relationships

is_a congenital myasthenic syndrome

is_a autosomal recessive disease

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