Congenital myasthenia syndromes: clinical description of a pediatric cohort


Congenital myasthenic syndromes (CMS) are a group of heterogeneous diseases caused by mutations in genes encoding for proteins involved in the neuromuscular junction that lead to an impaired signal transmission. We describe the clinical and paraclinical history of 12 patients with genetically confirmed CMS (1 CHRND, 2 AGRN, 1 DOK7, 1 MUSK, 4 RAPSN, 1 DPAGT1, 2 COLQ). Fatigable weakness was mentioned in all patients. The first symptom appeared at the latest in the first month of life (extremes: antenatal to less than 1 month of life).


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