Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene

Duchenne muscular dystrophy (DMD) is a severe progressive muscle disease that mainly affects boys due to X-linked recessive inheritance. In most affected individuals, MLPA or sequencing-based techniques detect deletions, duplications, or point mutations in the dystrophin-encoding DMD gene. However,...

Descripción completa

Detalles Bibliográficos
Autores principales: Erbe, Leoni S., Hoffjan, Sabine, Janßen, Sören, Kneifel, Moritz, Krause, Karsten, Gerding, Wanda M., Döring, Kristina, Güttsches, Anne-Katrin, Roos, Andreas, Buena Atienza, Elena, Gross, Caspar, Lücke, Thomas, Nguyen, Hoa Huu Phuc, Vorgerd, Matthias, Köhler, Cornelia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10572545/
https://www.ncbi.nlm.nih.gov/pubmed/37834164
http://dx.doi.org/10.3390/ijms241914716

Ejemplares similares

Ejemplares similares