A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy

BACKGROUND: Congenital cervical spinal muscular atrophy (CCSMA) is a rare, nonprogressive, neurogenic disorder characterized by symmetric arthrogryposis and motor deficits mainly confined to upper extremities. Since its first proposal by Darwish et al. 39 years ago, only few cases have ever been rep...

Descripción completa

Detalles Bibliográficos
Autores principales: Liu, Jingwei, Wang, Kelai, Li, Baomin, Yang, Xiaofan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104167/
https://www.ncbi.nlm.nih.gov/pubmed/33513289
http://dx.doi.org/10.1002/mgg3.1606

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104167/
https://www.ncbi.nlm.nih.gov/pubmed/33513289
http://dx.doi.org/10.1002/mgg3.1606

Ejemplares similares