| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Myasthenic Syndrome Congenital 4C (CHRNE) | myasthenic syndrome with AChR def etc | Autosomal Recessive | 17p13 | Deletion | CHRNE | 1267delG | Frame shift mutation & PTC | Croxen et al., 1999/1999 |
