Congenital myasthenic syndrome (CMS): MUSK
Evidence-based neurology checklist on congenital myasthenic syndrome (cms): musk: Pathology This is caused by mutations in the MUSK gene on chromosome 9q The gene is important for synaptic differentiation The transmission is autosomal recessive Bulbar features Other clinical features Management…
Pathology
- This is caused by mutations in the MUSK gene on chromosome 9q
- The gene is important for synaptic differentiation
- The transmission is autosomal recessive
Bulbar features
Other clinical features
Management
Acronym
References
- Chevessier F, Faraut B, Ravel-Chapuis A, et al. MUSK, a new target for mutations causing congenital myasthenic syndrome. Hum Mol Genet 2004; 13:3229-3240.
- Gallenmuller C, Muller-Felber W, Dust M, et al. Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK. Neuromusc Disord 2014; 24:31-35.
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