Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.
Paula Triana-FonsecaJuan Fernando Parada-MárquezClaudia T Silva AldanaDaniela Zambrano-ArenasLaura Lucia Arias-GomezNatalia Morales-FonsecaEsteban Medina-MéndezCarlos Martin RestrepoDaniel Felipe Silgado-GuzmánDora Janeth Fonseca MendozaPublished in: The application of clinical genetics (2021)
Our results described the genetic profile of the dystrophin gene in Colombian patients with DMD and contribute to efforts to identify molecular variants in Latin American populations. For our population, 18.8% of cases could be treated with FDA or MDA approved molecular therapies based on specific mutations. These data contribute to the establishment of appropriate genetic counseling and potential treatment.
Keyphrases
- copy number
- genome wide
- duchenne muscular dystrophy
- end stage renal disease
- newly diagnosed
- muscular dystrophy
- dna methylation
- ejection fraction
- chronic kidney disease
- prognostic factors
- genome wide identification
- single molecule
- electronic health record
- breast cancer cells
- combination therapy
- climate change
- quality improvement
- signaling pathway
- hiv testing
- hiv infected
- replacement therapy