Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns.

Autor: Nmer S; Biomedical and Translational Research Laboratory, Faculty of Medicine, Pharmacy and Dentistry, Sidi Mohamed Ben Abdellah University, Fez, MAR.; Medical Genetics and Oncogenetics Unit, Central Laboratory of Medical Analyses, Hassan II University Hospital, Fez, MAR., Ameli A; Medical Genetics and Oncogenetics Unit, Central Laboratory of Medical Analyses, Hassan II University Hospital, Fez, MAR., Trhanint S; Medical Genetics and Oncogenetics Unit, Central Laboratory of Medical Analyses, Hassan II University Hospital, Fez, MAR., Chaouki S; Pediatric Emergency, Hassan II University Hospital, Fez, MAR.; Biomedical and Translational Research Laboratory, Faculty of Medicine, Pharmacy and Dentistry, Sidi Mohamed Ben Abdellah University, Fez, MAR., Bouguenouch L; Biomedical and Translational Research Laboratory, Faculty of Medicine, Pharmacy and Dentistry, Sidi Mohamed Ben Abdellah University, Fez, MAR.; Medical Genetics and Oncogenetics Unit, Central Laboratory of Medical Analyses, Hassan II University Hospital, Fez, MAR., Ouldim K; Biomedical and Translational Research Laboratory, Faculty of Medicine, Pharmacy and Dentistry, Sidi Mohamed Ben Abdellah University, Fez, MAR.; Medical Genetics and Oncogenetics Unit, Central Laboratory of Medical Analyses, Hassan II University Hospital, Fez, MAR.

Publikováno v: Cureus [Cureus] 2024 Jun 03; Vol. 16 (6), pp. e61599. Date of Electronic Publication: 2024 Jun 03 (Print Publication: 2024).