congenital myasthenic syndrome 15

Term ID

DOID:0110658

Synonyms

CMS15
congenital myasthenic syndrome 15 without tubular aggregates

Definition

A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21. https://www.ncbi.nlm.nih.gov/pubmed/23404334

References

OMIM:616227

Ontology

Human Disease ( DOID:0110658 )

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

Citations