Version May 2024
| CMS syndrome | Gene |
| Ubiquitously expressed proteins | |
| N-glycosylation pathway | |
| Glutamine:fructose-6-phosphate transaminase 1 | GFPT1 |
| Dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | DPAGT1 |
| Guanosine diphosphate-mannose (GDP-mannose) pyrophosphorylase B | GMPPB |
| Alpha 1,3 mannosyltransferase* | ALG2 |
| Asparagine-linked glycosylation 14 homolog* | ALG14 |
| Propyl-olygopeptidase | |
| PREPL* | PREPL |
| Proteins with defined neuromuscular junction function | |
| Presynaptic | |
| Choline acetyltransferase | CHAT |
| Vesicular acetylcholine transporter* | SLC18A3 |
| Choline transporter* | SLC5A7 |
| Synaptosomal-associated protein 25Kd* | SNAP25 |
| Synaptotagmin 2* | SYT2 |
| Unc-13 homolog A* | UNC13A |
| Vesicle-associated membrane protein 1* | VAMP1 |
| Synaptic | |
| Endplate acetylcholinesterase (AChE) deficiency | COLQ |
| Laminin beta 2 deficiency* | LAMB2 |
| Laminin alpha 5 deficiency* | LAMA5 |
| Nonfibrillar transmembrane collagen deficiency* | COL13A1 |
| Postsynaptic | |
| Primary acetylcholine receptor (AChR) deficiency | CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG |
| Escobar syndrome* | CHRNG |
| Rapsyn | RAPSN |
| DOK7 | DOK7 |
| Slow channel syndrome | CHRNA1, CHRNB1, CHRND, CHRNE |
| Fast channel syndrome | CHRNA1, CHRND, CHRNE |
| Low conductance syndrome* | CHRNE |
| Muscle-specific receptor tyrosine kinase (MuSK)* | MUSK |
| Plectin deficiency* | PLEC1 |
| Na-channel myasthenia* | SCN4A |
| Agrin* | AGRN |
| LRP4* | LRP4 |
| Unconventional myosin deficiency* | MYO9A |
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
