Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls

Dystrophinopathies are the most common muscle diseases, especially in men. In women, on the other hand, a manifestation of Duchenne muscular dystrophy is rare due to X-chromosomal inheritance. We present two young girls with severe muscle weakness, muscular dystrophies, and creatine kinase (CK) leve...

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Detalles Bibliográficos
Autores principales: Pluta, Natalie, von Moers, Arpad, Pechmann, Astrid, Stenzel, Werner, Goebel, Hans-Hilmar, Atlan, David, Wolf, Beat, Nanda, Indrajit, Zaum, Ann-Kathrin, Rost, Simone
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10488134/
https://www.ncbi.nlm.nih.gov/pubmed/37686372
http://dx.doi.org/10.3390/ijms241713567

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10488134/
https://www.ncbi.nlm.nih.gov/pubmed/37686372
http://dx.doi.org/10.3390/ijms241713567

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