The team of clinicians at Bangalore University Hospital in southern India compiled clinical and genetic data on all cases of congenital myasthenic syndrome (CMS) diagnosed in their unit between 2014 and 2019 :
- 156 patients from 146 families were included in the study,
- in the vast majority of cases (94%), a molecular signature could be established,
- although anomalies in the CHRNE gene encoding the epsilon subunit of the acetylcholine receptor remain the most prevalent (64%), genes involved in glycosylation (in particular DPAGT1, GFPT1 and GMPBB) are implicated in no less than 21% of cases,
- the authors identified seven new recurrent pathological variants, suggesting the existence of several founder effects in the region.
