دورية أكاديمية
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.
| العنوان: | Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases. |
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| المؤلفون: | Muntadas JA; Pediatric Neurology, Hospital Italiano, Gascon 450. Capital Federal, Buenos Aires, 4959-0200, Argentina., Hyland MR; Pediatric Neurology, Hospital Italiano, Gascon 450. Capital Federal, Buenos Aires, 4959-0200, Argentina., Martínez MDRO; Pediatric Neurology, Hospital Italiano, Gascon 450. Capital Federal, Buenos Aires, 4959-0200, Argentina., Young JN; Department of Neurology, University of California Davis, 1515 Newton Court, Davis, CA, 95618, USA., Chong JX; Brotman Baty Institute for Precision Medicine, 1959 NE Pacific St, Seattle, WA, 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4245 Roosevelt Way NE, Seattle, WA, 98105, USA., Bamshad MJ; Department of Genome Sciences, University of Washington, William H. Foege Hall, 3720 15th Ave NE, Seattle, WA, 98195, USA.; Brotman Baty Institute for Precision Medicine, 1959 NE Pacific St, Seattle, WA, 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4245 Roosevelt Way NE, Seattle, WA, 98105, USA., Maselli RA; Department of Neurology, University of California Davis, 1515 Newton Court, Davis, CA, 95618, USA. ramaselli@ucdavis.edu. |
| المصدر: | BMC medical genomics [BMC Med Genomics] 2024 Aug 12; Vol. 17 (1), pp. 207. Date of Electronic Publication: 2024 Aug 12. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: London : BioMed Central |
| مواضيع طبية MeSH: | Myasthenic Syndromes, Congenital*/genetics, Humans ; Male ; Mutation ; Symporters/genetics ; Child ; Child, Preschool |
| مستخلص: | 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 the association with life-threatening episodes of apnea. One of these variants is caused by mutations in the SLC5A7 gene, which encodes the sodium-dependent HC-3 high-affinity choline transporter 1 (CHT1). To our knowledge there are no published cases of this CMS type in Latin America. Case Presentation: We present two cases of CHT1-CMS. Both patients were males presenting with repeated episodes of apnea, hypotonia, weakness, ptosis, mild ophthalmoparesis, and bulbar deficit. The first case also presented one isolated seizure, while the second case showed global developmental delay. Both cases, exhibited incomplete improvement with treatment with pyridostigmine. Conclusions: This report emphasizes the broad incidence of CMS with episodic apnea caused by mutations in the SLC5A7 gene and the frequent association of this condition with serious manifestations of central nervous system involvement. (© 2024. The Author(s).) |
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| معلومات مُعتمدة: | U01 HG011744 United States HG NHGRI NIH HHS; U24 HG011746 United States HG NHGRI NIH HHS; UM1 HG006493 United States HG NHGRI NIH HHS; U01 HG011744, UM1 HG006493, U24 HG011746 National Human Genome Research Institute Home |
| فهرسة مساهمة: | Keywords: SLC5A7; Choline transporter 1; Congenital myasthenic syndromes; Episodic apnea; Presynaptic |
| المشرفين على المادة: | 0 (SLC5A7 protein, human) 0 (Symporters) |
| تواريخ الأحداث: | Date Created: 20240812 Date Completed: 20240813 Latest Revision: 20240923 |
| رمز التحديث: | 20240923 |
| مُعرف محوري في PubMed: | PMC11318227 |
| DOI: | 10.1186/s12920-024-01977-6 |
| PMID: | 39135055 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1755-8794 |
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| DOI: | 10.1186/s12920-024-01977-6 |