Metadata | |
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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 | |
Synonyms |
CMS12 [EXACT] congenital myasthenia 12 with tubular aggregates [EXACT] |
Parent Relationships |