Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases
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.
Authors
- Jessica X. Chong (ORCID: https://orcid.org/0000-0002-1616-2448)
- Ricardo A. Maselli (ORCID: https://orcid.org/0000-0002-0918-0760)
- Javier A Muntadas
- Martin R Hyland
- Maria Del Rosario Ortolá Martínez
- Jaime N. Young
- Michael J Bamshad
Institutions
- Roosevelt University (US)
- University of Washington (US)
- Hospital Italiano de Buenos Aires (AR)
- Brotman Baty Institute (US)
- University of California, Davis (US)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-08-12
- DOI
- https://doi.org/10.1186/s12920-024-01977-6
- Primary Topic
- Myasthenia Gravis and Thymoma
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Myasthenia Gravis Foundation of America
- University of Washington
- National Human Genome Research Institute