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Metadata
ID DOID:0110664
Name congenital myasthenic syndrome 3C
Definition A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.
https://www.ncbi.nlm.nih.gov/pubmed/16916845
Xrefs

MIM:616323

Synonyms

congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency [EXACT]

Parent Relationships

is_a congenital myasthenic syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

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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