congenital myasthenic syndrome 16

Term ID

DOID:0110682

Synonyms

CMS16
congenital myasthenic syndrome acetazolamide-responsive

Definition

A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. https://www.ncbi.nlm.nih.gov/pubmed/12766226

References

MIM:614198

Ontology

Human Disease ( DOID:0110682 )

Relationships

is a type of: autosomal recessive disease congenital myasthenic syndrome

autosomal recessive disease congenital myasthenic syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models