Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation : a report of 2 cases
Objective: To investigate the clinical and genetic features of congenital myasthenia syndrome with episodic apnea (CMS-EA) caused by gene mutation of choline acetyltransferase (CHAT) Methods: The clinical data of 2 patients with congenital myasthenia syndrome were collected, and both were diagnosed...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 3 vom: 02. März, Seite 216-220
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| 1. Verfasser: |
Liu, Z M
(VerfasserIn) |
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| Weitere Verfasser: |
Fang, F,
Ding, C H,
Zhang, W H,
Deng, J,
Chen, C H,
Wang, X,
Liu, J,
Li, Z,
Jia, X L,
Zeng, J S,
Qian, S Y |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2018
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Schlagworte: | Case Reports
Journal Article
Apnea
Loss of heterozygosity
Myasthenic syndrome congenital
Choline O-Acetyltransferase
EC 2.3.1.6 |
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