congenital myasthenic syndrome 6

Term ID

DOID:0110671

Synonyms

• CMS Ia2
• CMS1A2
• CMS6
• CMSEA
• congenital myasthenic syndrome 6, presynaptic
• congenital myasthenic syndrome type Ia2
• congenital presynaptic myasthenic syndrome associated with episodic apnea
• familial infantile myasthenia
• familial infantile myasthenia gravis 2
• FIM
• FIMG2

Definition

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. (3)

References

• MIM:254210

Ontology

Human Disease   ( DOID:0110671 )