Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.

Alba Segarra-Casas Cristina Domínguez-GonzálezAurelio Hernández-LaínMaria Teresa Sanchez-CalvinAna CamachoEloy RivasAndrea Campo-BarasoainMarcos MadrugaCarlos OrtezDaniel Natera-de BenitoAndrés NascimentoAnna CodinaMaria Jose RodriguezPia GallanoLidia Gonzalez-Quereda

Published in: Journal of medical genetics (2022)

gene is a valuable tool to reach a precise genetic diagnosis in patients with a clinical and anatomopathological suspicion of dystrophinopathy that remain genetically undiagnosed after routine genetic testing.

Keyphrases

muscular dystrophy
genome wide
copy number
duchenne muscular dystrophy
dna methylation
gene expression
transcription factor
genome wide identification