Congenital myasthenic syndrome (CMS): LAMB2
Evidence-based neurology checklist on congenital myasthenic syndrome (cms): lamb2: Pathology This is caused by mutations in the laminin β2 (LAMB2) gene The mutations are also associated with Pierson syndrome: this is an oculorenal syndrome Clinical features Treatment
Pathology
- This is caused by mutations in the laminin β2 (LAMB2) gene
- The mutations are also associated with Pierson syndrome: this is an oculorenal syndrome
Clinical features
Treatment
References
- Maselli RA, Ng JJ, Anderson JA, et al. Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J Med Genet 2009; 46:203-208.
- Zenker M, Aigner T, Wendler O, et al. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 2004; 13:2625-2632.
- Matejas V, Al-Gazali L, Amirlak I, Zenker M. A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2. Nephrol Dial Transplant 2006; 21:3283-3286.
Related checklists
- Congenital myasthenic syndrome (CMS): genetic classification
- 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): 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
