Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis
European Journal of Neurology2021Vol. 29(3), pp. 833–842
Citations Over TimeTop 10% of 2021 papers
Eduardo de Paula Estephan, Antônio Alberto Zambon, Rachel Thompson, Kiran Polavarapu, Danny Jomaa, Ana Töpf, Paulo Victor Partezani Helito, Carlos Otto Heise, Cristiane Araújo Martins Moreno, André Macedo Serafim da Silva, João Aris Kouyoumdjian, Maria da Penha Ananias Morita, Umbertina Conti Reed, Hanns Lochmüller, Edmar Zanoteli
Abstract
Stricter clinical criteria increase the chance of confirming a CMS diagnosis, but may lose sensitivity, especially for some specific genes.
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