congenital myasthenic syndrome 5

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Disease Overview

Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.

Synonyms

CMS Ic
CMS5
COLQ congenital myasthenic syndrome
Cms Ic
Cms Ic, formerly
EAD
Engel congenital myasthenic syndrome
congenital myasthenic syndrome 5
congenital myasthenic syndrome Engel type
congenital myasthenic syndrome caused by mutation in COLQ
congenital myasthenic syndrome type 5
congenital myasthenic syndrome type Ic
congenital myasthenic syndrome type Ic, formerly
end plate acetylcholinesterase deficiency
endplate acetylcholinesterase deficiency
myasthenic syndrome, congenital, 5
myasthenic syndrome, congenital, Engel type
myasthenic syndrome, congenital, type 5

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.