Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

doi:10.3390/biom15101426

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Article

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

Biomolecules - 8 Oct 2025

Fortunato Fernanda, Fiocco Laura, Margutti Alice, Neri Marcella, D'Amico Adele, Bertini Enrico, Ricci Enzo, Mercuri Eugenio Maria, Pane Marika, Massa Roberto, Greco Giulia, Berardinelli Angela Lucia, Cereda Cristina, Pini Antonella, Merlini Luciano, Fusco Carlo, Rodolico Carmelo, Messina Sonia, Fiorillo Chiara, Bruno Claudio, Pedemonte Marina, Traverso Monica, Moroni Isabella, Maggi Lorenzo, Gibertini Sara, Pegoraro Elena, Picillo Esther, Politano Luisa, Scutifero Marianna, Vercellino Fabiana, Massaro Francesca, Filosto Massimiliano, Gasparini Paolo, Ricci Federica, Mongini Tiziana Enrica, Selvatici Rita, Ferlini Alessandra, Gualandi Francesca

Abstract excerpt

Collagen VI is an extracellular matrix component encoded by COL6A1, COL6A2 and COL6A3 genes. Causative variants in these genes are associated with the following collagen VI-related myopathies: severe Ullrich congenital muscular dystrophy (UCMD), milder Bethlem myopathy (BM) and intermediate phenotypes (INT). We report the mutation landscape of COL6A genes in 138 Italian patients affected with a collagen...

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Identifiers

PMID: 41154655
DOI: 10.3390/biom15101426
PMCID: PMC12564197

Genes

COL6A1
COL6A2
COL6A3

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