Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy

A 2‐month‐old male patient harboring a duplication of DMD exons 1–7 classified as pathogenic by an outside institution presented with mildly elevated creatine phosphokinase (CK); molecular breakpoint analysis by our laboratory reclassified the duplication as likely benign. To date, proband continues...

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Detalles Bibliográficos
Autores principales: Zepeda‐Mendoza, Cinthya J., Bontrager, Jordan E., Fisher, Camille F., McDonald, Amber, George‐Abraham, Jaya K., Hasadsri, Linda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272227/
https://www.ncbi.nlm.nih.gov/pubmed/35846917
http://dx.doi.org/10.1002/ccr3.6008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272227/
https://www.ncbi.nlm.nih.gov/pubmed/35846917
http://dx.doi.org/10.1002/ccr3.6008

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