Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. Delta-sarcoglycanopathy (LGMDR6) is the least frequent and is considered an ultra-...

Descripción completa

Detalles Bibliográficos
Autores principales: Alonso-Pérez, Jorge, González-Quereda, Lidia, Bruno, Claudio, Panicucci, Chiara, Alavi, Afagh, Nafissi, Shahriar, Nilipour, Yalda, Zanoteli, Edmar, Isihi, Lucas Michielon de Augusto, Melegh, Béla, Hadzsiev, Kinga, Muelas, Nuria, Vílchez, Juan J, Dourado, Mario Emilio, Kadem, Naz, Kutluk, Gultekin, Umair, Muhammad, Younus, Muhammad, Pegorano, Elena, Bello, Luca, Crawford, Thomas O, Suárez-Calvet, Xavier, Töpf, Ana, Guglieri, Michela, Marini-Bettolo, Chiara, Gallano, Pia, Straub, Volker, Díaz-Manera, Jordi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014751/
https://www.ncbi.nlm.nih.gov/pubmed/34515763
http://dx.doi.org/10.1093/brain/awab301

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014751/
https://www.ncbi.nlm.nih.gov/pubmed/34515763
http://dx.doi.org/10.1093/brain/awab301

Ejemplares similares