Clinical, electrophysiological, and genetic analysis of a family with two rare neuromuscular disorders: congenital myasthenic syndrome and hereditary polyneuropathy.
作者信息
Tezen Didem, Khojakulov Zakhiriddin, Gündüz Ayşegül, Deymeer Feza, Demirbilek Veysi, Başak Ayşe Nazlı
机构信息
Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University- Cerrahpasa, Cerrahpaşa Mah. Kocamustafapaşa Cad. No:11, Fatih, Istanbul, Turkey.
Neurodegeneration Research Laboratory, NDAL-KUTTAM, School of Medicine, Suna and Inan Kıraç Foundation, Koc University, Istanbul, Turkey.
出版信息
Neurol Sci. 2024 Dec;45(12):5967-5971. doi: 10.1007/s10072-024-07771-7. Epub 2024 Oct 1.
PMID:39352617
Abstract
摘要
Zotero 插件