A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation

BACKGROUND: Congenital myasthenic syndromes (CMSs) are characterized by hypotonia, episodic apnea, muscle weakness, ptosis and generalized fatigability. CMS type 20 (CMS20) is a rare disorder caused by variants in SLC5A7. In contrast to most other CMSs, CMS20 is also associated with neurodevelopment...

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Detalles Bibliográficos
Autores principales: Vlckova, Marketa, Prchalova, Darina, Zimmermann, Pavel, Haberlova, Jana, Bendova, Sarka, Moslerova, Veronika, Stranecky, Viktor, Sedlacek, Zdenek, Hancarova, Miroslava
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265034/
https://www.ncbi.nlm.nih.gov/pubmed/36840359
http://dx.doi.org/10.1002/mgg3.2154

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265034/
https://www.ncbi.nlm.nih.gov/pubmed/36840359
http://dx.doi.org/10.1002/mgg3.2154

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