congenital myasthenic syndrome 14

Term ID

DOID:0110669

Synonyms

CMS14
CMSTA3
congenital myasthenic syndrome 14, with tubular aggregates
congenital myasthenic syndrome with tubular aggregates 3

Definition

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. (2)

References

MIM:616228

Ontology

Human Disease ( DOID:0110669 )

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