A Case of Congenital Myasthenia Gravis due to ChAT Gene Mutation in a Term Neonate: A Case Report

Autor: Maya Soufan, Haya Soufan, Kushagra Chaudhari, Judith Klarr

Publikováno v: American Journal of Perinatology Reports, Vol 14, Iss 03, Pp e193-e196 (2024)

Congenital myasthenia gravis syndrome (CMS) is a rare genetic heterogeneous disorder due to abnormal neuromuscular transmission caused by several genes. CMS caused by choline acetyltransferase (ChAT) gene mutations have been reported in 53 cases sinc

Externí odkaz: https://doaj.org/article/374cee4b1ed34c888de78712a146b60c

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Experience with salbutamol treatment in a family with congenital myasthenia due to CHRNE mutation.

Autor: Tezen D; Department of Neurology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey. Electronic address: didemtezen@gmail.com., Kızılkılıç EK; Department of Neurology, University of Health Sciences, Prof. Dr. Cemil Taşcıoğlu City Hospital, Istanbul, Turkey., Erener N; Department of Neurology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Khojakulov Z; Suna and Inan Kıraç Foundation, Neurodegeneration Research Laboratory, NDAL-KUTTAM, School of Medicine, Koc University, Istanbul, Turkey. Electronic address: zkhojakulov20@ku.edu.tr., Demirbilek V; Department of Neurology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey. Electronic address: veysi@bistek.net.tr., Başak AN; Suna and Inan Kıraç Foundation, Neurodegeneration Research Laboratory, NDAL-KUTTAM, School of Medicine, Koc University, Istanbul, Turkey. Electronic address: nbasak@ku.edu.tr.

Publikováno v: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology [Clin Neurophysiol] 2024 Dec 17; Vol. 170, pp. 120-122. Date of Electronic Publication: 2024 Dec 17.

General anesthesia for treating scoliosis with congenital myasthenia syndrome: a case report

Autor: Atsushi Yamashita, Yuka Muramatsu, Hiromi Matsuda, Hirotsugu Okamoto

Publikováno v: JA Clinical Reports, Vol 8, Iss 1, Pp 1-3 (2022)

Abstract Background Congenital myasthenia syndrome is a heterogeneous disease with impaired neuromuscular transmission. Case presentation This report describes a 13-year-old child with congenital myasthenia syndrome who underwent surgery for scoliosi

Externí odkaz: https://doaj.org/article/f3933bcda20d45b597b4ac6aff3812d9