LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

Mutations in the LAMA2 gene affect the production of the α2 subunit of laminin-211 (= merosin) and result in either partial or complete laminin-211 deficiency. Complete merosin deficiency is typically associated with a more severe congenital muscular dystrophy (CMD), clinically manifested by hypoton...

Descripción completa

Detalles Bibliográficos
Autores principales: Sarkozy, Anna, Foley, A. Reghan, Zambon, Alberto A., Bönnemann, Carsten G., Muntoni, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419697/
https://www.ncbi.nlm.nih.gov/pubmed/32848593
http://dx.doi.org/10.3389/fnmol.2020.00123

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419697/
https://www.ncbi.nlm.nih.gov/pubmed/32848593
http://dx.doi.org/10.3389/fnmol.2020.00123

Ejemplares similares