Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
CHAT Choline acetyltransferase isoform       | 10q11.2 | * Myasthenia gravis, autosomal recessive - MGI (11.13)* Myasthenia gravis, familial infantile - FIMG (11.13)* Congenital myasthenic syndrome with choline acetyltransferase deficiency - CMS-EA (11.13)* Myasthenia gravis, familial infantile, 2 - FIMG2 (11.13)* Myasthenic syndrome, congenital, 6, presynaptic - CMS6 (11.13) |