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Article

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

International journal of molecular sciences - 11 Jul 2022

Castroflorio Enrico, Pérez Berná Ana Joaquina, López-Márquez Arístides, Badosa Carmen, Loza-Alvarez Pablo, Roldán Mónica, Jiménez-Mallebrera Cecilia

Abstract excerpt

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 single nucleotide variant mutation are unable to build the extracellular collagen VI network. This correlates with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35886995
DOI: 10.3390/ijms23147651
PMCID: PMC9322809

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