Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E

Genetic testing is essential for patients with a suspected hereditary myopathy. More than 50% of patients clinically diagnosed with a myopathy carry a variant of unknown significance in a myopathy gene, often leaving them without a genetic diagnosis. Limb-girdle muscular dystrophy (LGMD) type R4/2E...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Chengcheng, Wilborn, Jackson, Pittman, Sara, Daw, Jil, Alonso-Pérez, Jorge, Díaz-Manera, Jordi, Weihl, Conrad C., Haller, Gabe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10266784/
https://www.ncbi.nlm.nih.gov/pubmed/37317968
http://dx.doi.org/10.1172/JCI168156

Ejemplares similares

Ejemplares similares