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congenital myasthenic syndrome 1B

http://purl.obolibrary.org/obo/DOID_0110662

A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

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Term info

Label

congenital myasthenic syndrome 1B

Synonyms

CMS1B
congenital myasthenic syndrome 1B, fast-channel

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has obo namespace

disease_ontology

DOID:0110662

Term relations

Subclass of:

autosomal dominant disease
congenital myasthenic syndrome
autosomal recessive disease
has material basis in some autosomal recessive inheritance
has material basis in some autosomal dominant inheritance