Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report

OBJECTIVE: Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the dystrophin gene (DMD). Hypermethylated CGG expansions within DIP2B 5′ UTR are associated with an intellectual development disorder. Here, we demonstrate the diagnostic utility of genomic short-read sequencing (SRS)...

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Detalles Bibliográficos
Autores principales: Folland, Chiara, Ganesh, Vijay, Weisburd, Ben, McLean, Catriona, Kornberg, Andrew J., O'Donnell-Luria, Anne, Rehm, Heidi L., Stevanovski, Igor, Chintalaphani, Sanjog R., Kennedy, Paul, Deveson, Ira W., Ravenscroft, Gianina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117699/
https://www.ncbi.nlm.nih.gov/pubmed/37090938
http://dx.doi.org/10.1212/NXG.0000000000200064

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117699/
https://www.ncbi.nlm.nih.gov/pubmed/37090938
http://dx.doi.org/10.1212/NXG.0000000000200064

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