Congenital myasthenic syndrome (CMS): genetic classification
Evidence-based neurology checklist on congenital myasthenic syndrome (cms): genetic classification: CMS genes AGRN ALG14 ALG2 CHAT CHD8 CHRNA1 CHRNB1 CHRND CHRNE CHRNG COL13A1 COLQ DOK7 DPAGT1 GFPT1 GMPPB LAMA5 LRP4 MUSK MYO9A PLEC PREPL PURA RAPSN RPH3A SCN4A SLC18A3 SLC25A1 SLC5A7 SNAP25B SYT2…
CMS genes
- AGRN
- ALG14
- ALG2
- CHAT
- CHD8
- CHRNA1
- CHRNB1
- CHRND
- CHRNE
- CHRNG
- COL13A1
- COLQ
- DOK7
- DPAGT1
- GFPT1
- GMPPB
- LAMA5
- LRP4
- MUSK
- MYO9A
- PLEC
- PREPL
- PURA
- RAPSN
- RPH3A
- SCN4A
- SLC18A3
- SLC25A1
- SLC5A7
- SNAP25B
- SYT2
- TOR1AIP1
- UNC13A
- VAMP1
References
- Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes-a comprehensive review. IntJ Mol Sci 2023; 24:3730.
- Bauché S, Sureau A, Sternebrg D, et al. New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes. Neurol Genet 2020; 6:e534.
Related checklists
- Congenital myasthenic syndrome (CMS): pathway classification
- Congenital myasthenic syndrome (CMS): general features
- Congenital myasthenic syndrome (CMS): DOK7
- Congenital myasthenic syndrome (CMS): MUSK
- Congenital myasthenic syndrome (CMS): RAPSN
- Congenital myasthenic syndrome (CMS): COLQ
- Congenital myasthenic syndrome (CMS): AGRIN
- Congenital myasthenic syndrome (CMS): CHAT
- Congenital myasthenic syndrome (CMS): LAMB2
- Congenital myasthenic syndrome (CMS): GMPPB
- Congenital myasthenic syndrome (CMS): fast channel
- Congenital myasthenic syndrome (CMS): slow channel
- Congenital myasthenic syndrome (CMS): limb girdle
- Congenital myasthenic syndrome (CMS): glycosylation defects
- Congenital myasthenic syndrome with episodic apnoea (CMS-EA)
- Congenital myasthenic syndromes (CMS) presenting in adulthood
