Human genes for congenital myasthenic syndrome 6
Congenital myasthenic syndrome 6 [DOID:0110671]
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.
Synonyms: congenital myasthenic syndrome 6, DOID:0110671, CMS1A2, CMS6, CMSEA ...