Metadata | |
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ID | DOID:0110678 |
Name | congenital myasthenic syndrome 4A |
Definition | A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/12141316, https://www.ncbi.nlm.nih.gov/pubmed/25792100, https://www.ncbi.nlm.nih.gov/pubmed/7531341 |
Xrefs | |
Synonyms |
CMS Ia1 [EXACT] CMS1A1 [EXACT] CMS4A [EXACT] congenital myasthenic syndrome 4A slow-channel [EXACT] congenital myasthenic syndrometype Ia1 [EXACT] |
Parent Relationships |
is_a congenital myasthenic syndrome |
Subclass Logical Relationships |
has symptom some progressive weakness has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth has symptom some muscle weakness |