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

Abstract 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 bialleli...

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Autors principals:	Elizabeth A. Ulm, Chinmayee B. Nagaraj, Cuixia Tian, Teresa A. Smolarek
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2023-01-01
Col·lecció:	Molecular Genetics & Genomic Medicine
Matèries:	Duchenne muscular dystrophy genetic diseases neuromuscular diseases X‐Linked dilated cardiomyopathy
Accés en línia:	https://doi.org/10.1002/mgg3.2088
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