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 | | | Acetylcholine receptor
cholinergic receptor, nicotinic, alpha1 muscle
|
|
|  | 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 | | | Acetylcholine receptor
cholinergic receptor, nicotinic, alpha1 muscle
|
|
| | 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 |
|
| Congenital myasthenic syndrome, type Ia1 - (AR) | 11.15 | | | | Myasthenia, familial infantil, 1 -FIM1 |
|
| Familial limb-girdle myasthenia - (AR) | 11.16 | | | | Familial limb-girdle myasthenia -LGM |
|
| Sodium-channel myasthenia - (AR) | 11.17 | | | sodium channel, voltage-gated, type IV, alpha
|
|
| | Hyperkalemic periodic paralysis -hyperKPP | | Hypokalemic periodic paralysis -hypoKPP | | Hypokalemic periodic paralysis type2 -hypoKPP2 | | Myotonia congenita, atypical, acetazolamide-responsive -SCN4A | | Paramyotonia congenita of Von Eulenburg -PMC | | Potassium-aggravated myotonia - |
|
| Escobar syndrome (multiple pterygium syndrome) - (AR) | 11.18 | | | cholinergic receptor, nicotinic, gamma polypeptide
|
|
| | Escobar syndrome (multiple pterygium syndrome) -CHRNG |
|
| Myasthenic syndrome, myopathy and epidermis bullosa - (AR) | 11.19 | | | plectin 1, intermediate filament binding protein 500kDa
|
|
| | Epidermolysis bullosa simplex, Ogna type -EBS1 | | Muscular dystrophy with epidermolysis bullosa simplex -MDEBS | | myasthenic syndrome, myopathy and epidermis bullosa - |
|
