Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.
Eduardo de Paula EstephanAntonio A ZambonRachel ThompsonKiran PolavarapuDanny JomaaAna TöpfPaulo V P HelitoCarlos O HeiseCristiane A M MorenoAndré M S SilvaJoao A KouyoumdjianMaria da Penha MoritaUmbertina C ReedHanns LochmüllerEdmar ZanoteliPublished in: European journal of neurology (2021)
Stricter clinical criteria increase the chance of confirming a CMS diagnosis, but may lose sensitivity, especially for some specific genes.