Version May 2024
| Slow-channel congenital myasthenic syndrome |
| Dominantly inherited mutation in an acetylcholine receptor subunit gene |
| CMS refractory to or worsened by acetylcholinesterase inhibitors |
| ColQ subunit of the endplate-specific form of acetylcholinesterase, Dok-7, MuSK, agrin, LRP4, plectin, or laminin β2 |
| Repetitive compound muscle action potential evoked by single nerve stimuli |
| Slow-channel CMS and ColQ |
| Delayed pupillary light response |
| Some patients with ColQ mutations |
| Congenital contractures |
| Rapsyn, acetylcholine receptor δ or γ subunit, or choline acetyltransferase |
| Greater than 50% decrease of compound muscle action potential amplitude after subtetanic stimulation at 10 Hz for 5 minutes followed by slow recovery over 5 to 10 minutes |
| Choline acetyltransferase |
| Sudden apnoeic episodes induced by fever or stress |
| Choline acetyltransferase, rapsyin, or sodium channel myasthenia |
| Limb-girdle and axial distribution of weakness |
| Dok7, GFPT1, DPAGT1, ALG2, ALG14, GMPPB; occasionally rapsyn or ColQ |
| Tubular aggregates of the sarcoplasmic reticulum in muscle fibres |
| GFPT1, DPAGT1, ALG2 |
| Autophagic myopathy |
| GFPT1, DPAGT1 |
| Stridor and vocal cord paralysis in neonates or infants |
| Dok-7 |
| Nephrotic syndrome and ocular malformations |
| Laminin β2 |
| Association with seizures or intellectual disability |
| DPAGT1 |
| Association with epidermolysis bullosa simplex and muscular dystrophy |
| Plectin |
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