Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases

Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases

Abstract Background Congenital Myasthenic Syndromes (CMS) are rare genetic diseases, which share as a common denominator muscle fatigability due to failure of neuromuscular transmission. A distinctive clinical feature of presynaptic CMS variants caused by defects of the synthesis of acetylcholine is...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Javier A Muntadas, Martin R Hyland, Maria Del Rosario Ortolá Martínez, Jaime N Young, Jessica X Chong, Michael J Bamshad, Ricardo A. Maselli
التنسيق: مقال
اللغة:English
منشور في: BMC 2024-08-01
سلاسل:BMC Medical Genomics
الموضوعات:
Congenital myasthenic syndromes
Presynaptic
Episodic apnea
Choline transporter 1
SLC5A7
الوصول للمادة أونلاين:https://doi.org/10.1186/s12920-024-01977-6

الانترنت

https://doi.org/10.1186/s12920-024-01977-6

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