Cargando…
LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models
Merosin deficient Congenital Muscular Dystrophy (MDC1A), or LAMA2-related muscular dystrophy (LAMA2-RD), is a recessive disorder resulting from mutations in the LAMA2 gene, encoding for the alpha-2 chain of laminin-211. The disease is predominantly characterized by progressive muscular dystrophy aff...
Autores principales: | Previtali, Stefano Carlo, Zambon, Alberto Andrea |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190814/ https://www.ncbi.nlm.nih.gov/pubmed/32390798 http://dx.doi.org/10.3389/fnmol.2020.00060 |
Ejemplares similares
-
Editorial: Current Insights Into LAMA2 Disease
por: Previtali, Stefano C., et al.
Publicado: (2021) -
Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies
por: Haidar, Mansour, et al.
Publicado: (2017) -
Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models
por: Arreguin, Andrea J., et al.
Publicado: (2020) -
LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness
por: Sarkozy, Anna, et al.
Publicado: (2020) -
Nerve pathology is prevented by linker proteins in mouse models for LAMA2-related muscular dystrophy
por: Reinhard, Judith R, et al.
Publicado: (2023)