Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

BACKGROUND AND OBJECTIVES: Spinal muscular atrophy (SMA) is mainly caused by homozygous SMN1 gene deletions on 5q13. Non-5q SMA patients’ series are lacking, and the diagnostic yield of next-generation sequencing (NGS) is largely unknown. The aim of this study was to describe the clinical and geneti...

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Detalles Bibliográficos
Autores principales: Fernández-Eulate, Gorka, Theuriet, Julian, Record, Christopher J., Querin, Giorgia, Masingue, Marion, Leonard-Louis, Sarah, Behin, Anthony, Le Forestier, Nadine, Pegat, Antoine, Michaud, Maud, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Tard, Celine, Bedat-Millet, Anne-Laure, Sole, Guilhem, Spinazzi, Marco, Salort-Campana, Emmanuelle, Echaniz-Laguna, Andoni, Poinsignon, Vianney, Latour, Philippe, Reilly, Mary M., Bouhour, Francoise, Stojkovic, Tanya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352921/
https://www.ncbi.nlm.nih.gov/pubmed/37470033
http://dx.doi.org/10.1212/NXG.0000000000200087

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352921/
https://www.ncbi.nlm.nih.gov/pubmed/37470033
http://dx.doi.org/10.1212/NXG.0000000000200087

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