Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Slow channel syndromes - (AD) | 11.1 | | | cholinergic receptor, nicotinic, alpha polypeptide 1
|
|
|  | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, slow-channel congenital - SCCMS |
|
| Slow channel syndromes - (AD) | 11.2 | | | cholinergic receptor, nicotinic, beta 1 muscle
|
|
| | * Myasthenic syndrome, congenital, Ie, included - CMS1E | | * Myasthenic syndrome, slow-channel congenital - SCCMS |
|
| Slow channel syndromes - (AD) | 11.3 | | | cholinergic receptor, nicotinic, delta
|
|
| | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, slow-channel congenital - SCCMS |
|
| Slow channel syndromes - (AD, AR) | 11.4 | | | cholinergic receptor, nicotinic, epsilon
|
|
| | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, slow-channel congenital - SCCMS |
|
| Fast channel syndrome - (AR) | 11.5 | | | cholinergic receptor, nicotinic, alpha polypeptide 1
|
|
| | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, slow-channel congenital - SCCMS |
|
| Fast channel syndrome - (AR) | 11.6 | | | cholinergic receptor, nicotinic, delta
|
|
| | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, slow-channel congenital - SCCMS |
|
| Fast channel syndrome - (AR) | 11.7 | | | cholinergic receptor, nicotinic, epsilon
|
|
| | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, slow-channel congenital - SCCMS |
|
| Acetylcholine receptor deficiency - (AR) | 11.8 | | | cholinergic receptor, nicotinic, beta 1 muscle
|
|
| | * Myasthenic syndrome, congenital, Ie, included - CMS1E | | * Myasthenic syndrome, slow-channel congenital - SCCMS |
|
| Acetylcholine receptor deficiency - (AR) | 11.9 | | | cholinergic receptor, nicotinic, delta
|
|
| | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, slow-channel congenital - SCCMS |
|
| Acetylcholine receptor deficiency - (AR) | 11.10 | | | cholinergic receptor, nicotinic, epsilon
|
|
| | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, slow-channel congenital - SCCMS |
|
| Congenital myasthenic syndrome with rapsyn deficiency - (AR) | 11.11 | | | | * Myasthenic syndrome, congenital - CMS1D |
|
| Congenital myasthenic syndrome with choline acetyltransferase deficiency - (AR) | 11.12 | | | choline acetyltransferase isoform
|
|
| | * Congenital myasthenic syndrome with choline acetyltransferase deficiency - CMS-EA | | * Myasthenia gravis, autosomal recessive - MGI | | * Myasthenia gravis, familial infantile - FIMG | | * Myasthenia gravis, familial infantile, 2 - FIMG2 |
|
| Congenital myasthenic syndrome with end-plate acetylcholin-esterase deficiency - (AR) | 11.13 | | | acetylcholinesterase collagen-like tail subunit
|
|
| | * Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD |
|
| Congenital myasthenic syndrome with MuSK deficiency - (AR) | 11.14 | | | skeletal muscle receptor tyrosine kinase
|
|
| | * Congenital myasthenic syndrome with MuSK deficiency - CMS1B |
|
| Familial limb-girdle myasthenia - (AR) | 11.15 | | | | * Familial limb-girdle myasthenia - LGM |
|
| Familial limb girdle myasthenia with tubular aggregates - (AR) | 11.16 | | | glutamine-fructose-6-phosphate transaminase 1
|
|
| | * Myastenia, Limb-Girdle, With tubular aggregates - LGM |
|
| Congenital myasthenic syndrome with agrin deficiency - (AR) | 11.17 | | | | * Myasthenia, limb-girdle, familial - LGM |
|
| Congenital myasthenic syndrome with Beta2-laminin deficiency - (AR) | 11.18 | | | laminin, beta 2 (laminin S)
|
|
| | * Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien |
|
| Congenital myasthenic syndrome, type Ia1 - (AR) | 11.19 | | | | * Myasthenia, familial infantil, 1 - FIM1 |
|
| Sodium-channel myasthenia - (AR) | 11.20 | | | sodium channel, voltage-gated, type IV, alpha
|
|
| | * Hyperkalemic periodic paralysis - HYPP | | * Hyperkalemic periodic paralysis, type 2 - HOKPP2 | | * Myotonia potassium-aggravatd | | * Paramyotonia congenita of Von Eulenburg - PMC | | * Potassium-aggravated myotonia | | * Sodium-channel myasthenia |
|
| Escobar syndrome (multiple pterygium syndrome) - (AR) | 11.21 | | | cholinergic receptor, nicotinic, gamma polypeptide
|
|
| | * Escobar syndrome (multiple pterygium syndrome) - CHRNG |
|
| Myasthenic syndrome, with plectin defect - (AR) | 11.22 | | | plectin 1, intermediate filament binding protein 500kDa
|
|
| | * Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS | | * Limb-girdle, muscular dystrophy, type 2q - LGMD2Q | | * Myasthenic syndrome, with plectin defect |
|
