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Human Disease

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
Ontology
Human Disease   ( DOID:0110658 )
Relationships
is a type of
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Genes Involved
Zebrafish Models