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

• OMIM:616228

Ontology

Human Disease   ( DOID:0110669 )