1. Muscular dystrophies5. Other myopathies9. Metabolic myopathies13. Hereditary ataxias
2. Congenital muscular dystrophies6. Myotonic syndromes10. Hereditary cardiomyopathies14. Hereditary motor and sensory neuropathies
3. Congenital myopathies7. Ion channel muscle diseases11. Congenital myasthenic syndromes15. Hereditary paraplegias
4. Distal myopathies8. Malignant hyperthermia12. Spinal muscular atrophies motoneuron diseases16. Mitochondrial Myopathies
17. Other neuromuscular disorders

11. CONGENITAL MYASTHENIC SYNDROMES (See references) - (download list of genes)
Grey lines background indicate newly added items
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Myasthenic syndrome, congenital, 1A, Slow-channel - (AD)
11.1
7619526
8872460
9158151
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1
* Myasthenic syndrome, fast-channel congenital - FCCMS
* Myasthenic syndrome, slow-channel congenital - SCCMS
* Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency
* Myasthenic syndrome, congenital, 1B, Fast-channel - CMS1B
* Myasthenic syndrome, congenital, 1A, Slow-channel - CMS1A
Myasthenic syndrome, congenital, 2A, Slow-channel - (AD)
11.2
8651643
8872460
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle
* Myasthenic syndrome, congenital, Ie, included - CMS1E
* Myasthenic syndrome, slow-channel congenital - SCCMS
* Myasthenic syndrome, congenital, 2B, Fast-channel - CMS2B
* Myasthenic syndrome, congenital, 2A, Slow-channel - CMS2A
Myasthenic syndrome, congenital, 3A, Slow-channel - (AD)
11.3
11782989
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta
* Myasthenic syndrome, slow-channel congenital - SCCMS
* Myasthenic syndrome, fast-channel congenital - FCCMS
* Myasthenic syndrome, congenital, 3B, Fast-channel - CMS3B
Myasthenic syndrome, congenital, 4A, Slow-channel - (AD, AR)
11.4
12034803
7531341
8872460
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon
* Myasthenic syndrome, fast-channel congenital - FCCMS
* Myasthenic syndrome, slow-channel congenital - SCCMS
* Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency - CMS4C
Myasthenic syndrome, congenital, 1B, Fast-channel - (AR)
11.5
10195214
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1
* Myasthenic syndrome, fast-channel congenital - FCCMS
* Myasthenic syndrome, slow-channel congenital - SCCMS
* Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency
* Myasthenic syndrome, congenital, 1B, Fast-channel - CMS1B
* Myasthenic syndrome, congenital, 1A, Slow-channel - CMS1A
Myasthenic syndrome, congenital, 2B, Fast-channel - (AR)
11.6
32504635
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle
* Myasthenic syndrome, congenital, Ie, included - CMS1E
* Myasthenic syndrome, slow-channel congenital - SCCMS
* Myasthenic syndrome, congenital, 2B, Fast-channel - CMS2B
* Myasthenic syndrome, congenital, 2A, Slow-channel - CMS2A
Myasthenic syndrome, congenital, 3B, Fast-channel - (AR)
11.7
11435464
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta
* Myasthenic syndrome, slow-channel congenital - SCCMS
* Myasthenic syndrome, fast-channel congenital - FCCMS
* Myasthenic syndrome, congenital, 3B, Fast-channel - CMS3B
Myasthenic syndrome, congenital, 4B, Fast-channel - (AR)
11.8
8755487
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon
* Myasthenic syndrome, fast-channel congenital - FCCMS
* Myasthenic syndrome, slow-channel congenital - SCCMS
* Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency - CMS4C
Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency - (AR)
11.9
10562302
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle
* Myasthenic syndrome, congenital, Ie, included - CMS1E
* Myasthenic syndrome, slow-channel congenital - SCCMS
* Myasthenic syndrome, congenital, 2B, Fast-channel - CMS2B
* Myasthenic syndrome, congenital, 2A, Slow-channel - CMS2A
Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency - (AR)
11.10
12499478
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta
* Myasthenic syndrome, slow-channel congenital - SCCMS
* Myasthenic syndrome, fast-channel congenital - FCCMS
* Myasthenic syndrome, congenital, 3B, Fast-channel - CMS3B
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency - (AR)
11.11
8957026
9158150
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon
* Myasthenic syndrome, fast-channel congenital - FCCMS
* Myasthenic syndrome, slow-channel congenital - SCCMS
* Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency - CMS4C
Myasthenic syndrome, congenital, 5 - (AR)
11.12
9758617
COLQ (3p25)
Acetylcholinesterase collagen-like tail subunit
* Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD
* Myasthenic syndrome, congenital, 5 - CMS5
Myasthenic syndrome, congenital, 6, presynaptic - (AR)
11.13
11172068
1840566
CHAT (10q11.2)
Choline acetyltransferase isoform
* Myasthenia gravis, autosomal recessive - MGI
* Myasthenia gravis, familial infantile - FIMG
* Congenital myasthenic syndrome with choline acetyltransferase deficiency - CMS-EA
* Myasthenia gravis, familial infantile, 2 - FIMG2
* Myasthenic syndrome, congenital, 6, presynaptic - CMS6
Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant - (AD)
11.14
25192047
SYT2 (1q32.1)
Synaptotagmin II
* Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC
* Distal motor neuropathy related to SYT2
* Myasthenic syndrome, congenital, 7B, presynaptic - CMS7B
* Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant - CMS7A
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive - (AR)
11.15
32250532
SYT2 (1q32.1)
Synaptotagmin II
* Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC
* Distal motor neuropathy related to SYT2
* Myasthenic syndrome, congenital, 7B, presynaptic - CMS7B
* Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant - CMS7A
Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects - (AR)
11.16
19631309
AGRN (1p36.33)
Agrin
* Familial limb girdle myasthenia related to agrin - CMS1B
* Fetal akinesia deformation related to AGRN
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency - (AR)
11.17
15496425
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase
* Congenital myasthenic syndrome related to MuSK - CMS1B
* Fetal akinesia deformation sequance with MUSK defect - FADS1
* Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency - CMS9
Myasthenic syndrome, congenital, 10 - (AR)
11.18
16917026
18626973
DOK7 (4p16.2)
Docking protein 7
* Familial limb-girdle myasthenia related to DOK7 - CMS1B
* Fetal akinesia deformation sequence 3 - FADS3
* Myasthenic syndrome, congenital, 10 - CMS10
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency - (AR)
11.19
11791205
12651869
RAPSN (11p11.2-p11.1)
Rapsyn
* Myasthenic syndrome, congenital - CMS1D
* Fetal akinesia deformation sequence 2 - FADS2
* Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency - CMS11
Myasthenia, congenital, 12, with tubular aggregates - (AR)
11.20
21310273
GFPT1 (2p12-p15)
Glutamine-fructose-6-phosphate transaminase 1
* Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - CMSTA1
* Myasthenia, congenital, 12, with tubular aggregates - CMS12
Myasthenic syndrome, congenital, 13, with tubular aggregates - (AR)
11.21
22742743
DPAGT1 (11q23.3)
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
* Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 - CMSTA2
* Myasthenic syndrome, congenital, 13, with tubular aggregates - CMS13
Myasthenic syndrome, congenital, 14, with tubular aggregates - (AR)
11.22
23404334
ALG2 (9q31.1)
Alpha-1,3/1,6-mannosyltransferase
* Myasthenic syndrome, congenital, 14, with tubular aggregates - CMS14
Myasthenic syndrome, congenital, 15, without tubular aggregates - (AR)
11.23
23404334
ALG14 (1p21.3)
UDP-N-acetylglucosaminyltransferase
* Myasthenic syndrome, congenital, 15, without tubular aggregates - CMS15
Myasthenic syndrome, congenital, 16 - (AR)
11.24
12766226
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha
* Hyperkalemic periodic paralysis - HYPP
* Myotonia potassium-aggravatd
* Sodium-channel myasthenia
* Myasthenic syndrome, acetazolamide-responsive
* Myasthenic syndrome, congenital, 16 - CMS16
* Severe foetal hypokinesia related to SCN4A
* Congenital Myopathy 22B, severe fetal - CMYP22B
* Congenital Myopathy 22A, classic - CMYP22A
* Hyperkalemic periodic paralysis, type 2 - HOKPP2
* Paramyotonia congenita of Von Eulenburg - PMC
* Potassium-aggravated myotonia
Myasthenic syndrome, congenital, 17 - (AR)
11.25
24234652
LRP4 (11p11.2)
LDL receptor related protein 4
* Congenital myasthenic syndrome - CMS17
Myasthenic syndrome, congenital, 18 - (AD)
11.26
25381298
SNAP25 (20p12.2)
Synaptosome associated protein 25
* Congenital myasthenic syndrome with intellectual disability and ataxia - CMS18
Congenital myasthenic syndrome type 19 - (AR)
11.27
26626625
COL13A1 (10q22.1)
Collagen type XIII alpha 1 chain
* Congenital myasthenic syndrome type 19 - CMS19
Myasthenic syndrome, congenital, 20, presynaptic - (AR)
11.28
27569547
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7
* Neuronopathy, distal hereditary motor, type VIIA, with vocal cord paralysis (Harper-Young) - HMND7
* Congenital myasthenic syndrome with episodic apnea - CMS20
Myasthenic syndrome, congenital, 21, presynaptic - (AR)
11.29
27590285
SLC18A3 (10q11.2)
Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3
* Myasthenic Syndrome, Congenital, 21, Presynaptic - CMS21
Myasthenic syndrome, congenital, 22
11.30
24610330
PREPL (2p21)
Prolyl endopeptidase-like
* Myasthenic syndrome, congenital, 22 - CMS22
Myasthenic syndrome, congenital, 23, presynaptic - (AR)
11.31
26870663
SLC25A1 (22q11.21)
Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1(M)
* Presynaptic congenital myasthenic syndrome 23 - CMS23
Myasthenic syndrome, congenital, 24, presynaptic - (AR)
11.32
27259756
MYO9A (15q23)
Myosin IXA
* Presynaptic congenital myasthenic syndrome 24 - CMS24
Myasthenic syndrome, congenital, 25 - (AR)
11.33
28168212
28253535
VAMP1 (12p13)
Vesicle associated membrane protein (synaptobrevin 1)(M)
* ataxia, spastic, 1, autosomal dominant - SPAX1
* Presynaptic congenital myasthenic syndrome 25 - CMS25
Congenital myasthenic syndrome with nephrotic syndrome - (AR)
11.34
19251977
LAMB2 (3p21)
Laminin, beta 2 (laminin S)
* Congenital myasthenic syndrome with nephrotic syndrome - NPHS5
Escobar syndrome (multiple pterygium syndrome) - (AR)
11.35
16826520
16826531
CHRNG (2q33-q34)
Cholinergic receptor, nicotinic, gamma polypeptide
* Escobar syndrome (multiple pterygium syndrome) - EVMPS
Myasthenic syndrome, with plectin defect - (AR)
11.36
10446808
21263134
PLEC (8q24.3)
Plectin
* Limb-girdle, muscular dystrophy, type 2q - LGMD2Q
* Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS
* Myasthenic syndrome, with plectin defect
* Limb girdle muscular dystrophy with ophthalmoplegia
Congenital Myasthenic syndrome related to GMPPB - (AR)
11.37
26133662
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B
* Muscle-eye-brain disease - MDDGA14
* Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14
* Congenital Myasthenic syndrome related to GMPPB
Presynaptic congenital myasthenic syndrome - (AR)
11.38
28544784
LAMA5 (20q13.33)
Laminin, Alpha 5
* Presynaptic congenital myasthenic syndrome
Presynaptic congenital myasthenic syndrome related to MUNC13-1 - (AR)
11.39
27648472
UNC13A (19p13.11)
Unc-13 homolog A (C. elegans)
* Presynaptic congenital myasthenic sydrome related to MUNC13-1
Congenital myasthenic syndrome related to RPH3A - (AR)
11.40
29441694
RPH3A (12q23.3)
Rabphilin 3A
* Congenital myasthenic syndrome related to RPH3A
Congenital myasthenic syndrome - (AR)
11.41
33215087
34164833
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1
* LAP1B related muscular dystrophy
* Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y
* Myopathy, autosomal recessive, with rigid spine and distal joint contractures - MRRSDC
* Congenital myasthenic syndrome
Congenital myasthenic syndrome - (AD)
11.42
32267004
CHD8 (14q11.2)
Chromodomain Helicase DNA-Binding Protein 8
* Congenital myasthenic syndrome
Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency - (AR)
11.43
27748205
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1
* Myasthenic syndrome, fast-channel congenital - FCCMS
* Myasthenic syndrome, slow-channel congenital - SCCMS
* Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency
* Myasthenic syndrome, congenital, 1B, Fast-channel - CMS1B
* Myasthenic syndrome, congenital, 1A, Slow-channel - CMS1A
Myopathy, cardiomyopathy and congenital myasthenic syndrome - (AR)
11.44
27440146
DES (2q35)
Desmin
* Desmin-related myopathy - DRM
* Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R
* Dilated cardiomyopathy, 1I - CMD1I
* Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7
* Myofibrillar myopathy 1 - MFM1
* Myopathy, cardiomyopathy and congenital myasthenic syndrome
* Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E
PURA syndrome with neurmuscular junction manisfestations - (AD)
11.45
36210261
PURA (5q31.3)
Purine-rich element-binding protein A
* PURA syndrome with neurmuscular junction manisfestations - NEDRIHF