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Metadata
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

MIM:605809

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

is_a autosomal dominant disease

is_a autosomal recessive disease

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

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