Cargando…

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing

The complete mutational spectrum of dystrophinopathies and limb-girdle muscular dystrophy (LGMD) remains unknown in Mexican population. Seventy-two unrelated Mexican male patients (73% of pediatric age) with clinical suspicion of muscular dystrophy and no evidence of DMD gene deletion on multiplex p...

Descripción completa

Detalles Bibliográficos
Autores principales: Alcántara-Ortigoza, Miguel Angel, Reyna-Fabián, Miriam Erandi, González-del Angel, Ariadna, Estandia-Ortega, Bernardette, Bermúdez-López, Cesárea, Cruz-Miranda, Gabriela Marisol, Ruíz-García, Matilde
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895915/
https://www.ncbi.nlm.nih.gov/pubmed/31671740
http://dx.doi.org/10.3390/genes10110856