A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings

by Olga Shchagina, Ludmila Bessonova, Igor Bychkov, Tatiana Beskorovainaya, Aleksander Poliakov
Published 2020-07-01

Identification of a Novel <i>de Novo</i> Variant in the <i>SYT2</i> Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy

by Olga Mironovich, Elena Dadali, Sergey Malmberg, Tatyana Markova, Oxana Ryzhkova, Aleksander Poliakov
Published 2020-10-01