CHRNE mutations account for approximately 50% of all congenital myasthenic syndrome (CMS). Although there are several CHRNE mutations described, some pathogenic allelic variants are especially frequent in certain ethnic groups. In Brazil a study held at the South of the country showed the CHRNE mutation c.130dupG as a quite prevalent cause of CMS, with a possible founder effect. To verify the frequency of this mutation among patients from other regions of the country and characterize clinical features of these patients.

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