myasthenic syndrome—congenital—1A—slow-channel

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myasthenic syndrome—congenital—1A—slow-channel2016-11-27T12:49:49+00:00

myasthenic syndrome—congenital—1A—slow-channel  

MOLECULAR MEDICINE, NEUROLOGY

A congenital myasthenic syndrome* (OMIM:601462) caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes.

*Congenital myasthenic syndromes are characterised by muscle weakness affecting axial and limb muscles with hypotonia in early-onset forms, ocular muscles–leading to ptosis and ophthalmoplegia, and facial and bulbar muscles–affecting sucking and swallowing, leading to dysphonia. 

Molecular pathology Defects of CHRNA1, which encodes cholinergic receptor—nicotinic—alpha 1 (muscle), a subunit of acetylcholine receptor, cause myasthenic syndrome—congenital—1A—slow-channel.

Synonyms Myasthenic syndrome—congenital—postsynaptic—slow channel, myasthenic syndrome—congenital—type IIa, SCCMS, slow-channel congenital myasthenic syndrome

References http://www.uniprot.org/uniprot/P11230

http://www.omim.org/entry/601462

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