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

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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Bibliographic Details
Main Authors: Enrico Castroflorio, Ana Joaquina Pérez Berná, Arístides López-Márquez, Carmen Badosa, Pablo Loza-Alvarez, Mónica Roldán, Cecilia Jiménez-Mallebrera
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:International Journal of Molecular Sciences
Subjects:
collagen VI
CMG2
super-resolution microscopy
muscular dystrophy
patient-derived fibroblasts
Online Access:https://www.mdpi.com/1422-0067/23/14/7651

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https://www.mdpi.com/1422-0067/23/14/7651

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