" /> Myasthenic syndrome, congenital, 1a, slow-channel - CISMeF





Preferred Label : Myasthenic syndrome, congenital, 1a, slow-channel;

Symbol : CMS1A;

CISMeF acronym : CMS1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myasthenic syndrome, congenital, type iia; CMS2A; Cms iia;

Description : Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction that can be classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. SCCMS is an autosomal dominant form of postsynaptic CMS. For a discussion of genetic heterogeneity of CMS, see 608931.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cholinergic receptor, nicotinic, alpha polypeptide-1 gene (CHRNA1, 100690.0001);

Prefixed ID : #601462;

Details


You can consult :


Nous contacter.
02/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.