Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype

BACKGROUND: Dystrophinopathies are X‐linked recessive conditions caused by pathogenic variants in the dystrophin (DMD) gene. In a family that included two boys with Becker muscular dystrophy (BMD) due to a DMD deletion of exons 45–47, maternal carrier testing unexpectedly identified biallelic DMD de...

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Detalles Bibliográficos
Autores principales: Ulm, Elizabeth A., Nagaraj, Chinmayee B., Tian, Cuixia, Smolarek, Teresa A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834199/
https://www.ncbi.nlm.nih.gov/pubmed/36424846
http://dx.doi.org/10.1002/mgg3.2088

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834199/
https://www.ncbi.nlm.nih.gov/pubmed/36424846
http://dx.doi.org/10.1002/mgg3.2088

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