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GENATLAS PHENOTYPE

last update : 12-01-2016

Symbol	CMS4A
Location	17p13.2
Name	congenital myasthenic syndrome, type IV A
Other name(s)	myasthenic syndrome type IIa
Corresponding gene	CHRNE
Other symbol(s)	SCCMS, CMS2A
Main clinical features	severe slow-channel syndrome selective involvement of cervical, scapular, and finger extensor muscles and ophthalmoparesis from infancy or early childhood
Genetic determination	autosomal recessive
	autosomal dominant
Related entries	including CMS4B, CMS4C (OMIM: 616324; OMIM: 608931)
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	cholinergic receptor, nicotinic, epsilon polypeptide (CHRNE)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types			mutation resulting in utrophin deficiency and reduced enfolding of the postsynaptic membrane

Remark(s)