The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy

Collagen VI-related disorders (COL6-RD) represent a severe form of congenital disease for which there is no treatment. Dominant-negative pathogenic variants in the genes encoding α chains of collagen VI are the main cause of COL6-RD. Here we report that patient-derived fibroblasts carrying a common...

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Detalles Bibliográficos
Autores principales: Castroflorio, Enrico, Pérez Berná, Ana Joaquina, López-Márquez, Arístides, Badosa, Carmen, Loza-Alvarez, Pablo, Roldán, Mónica, Jiménez-Mallebrera, Cecilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322809/
https://www.ncbi.nlm.nih.gov/pubmed/35886995
http://dx.doi.org/10.3390/ijms23147651

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