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

Collagen VI is an extracellular matrix component encoded by <i>COL6A1</i>, <i>COL6A2</i> and <i>COL6A3</i> 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...

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Principais autores:	Fernanda Fortunato, Laura Fiocco, Alice Margutti, Marcella Neri, Adele D’Amico, Enrico Bertini, Enzo Ricci, Eugenio Maria Mercuri, Marika Pane, Roberto Massa, Giulia Greco, Angela Lucia Berardinelli, Cristina Cereda, Antonella Pini, Luciano Merlini, Carlo Fusco, Carmelo Rodolico, Sonia Messina, Chiara Fiorillo, Claudio Bruno, Marina Pedemonte, Monica Traverso, Isabella Moroni, Lorenzo Maggi, Sara Gibertini, Elena Pegoraro, Esther Picillo, Luisa Politano, Marianna Scutifero, Fabiana Vercellino, Francesca Massaro, Massimiliano Filosto, Paolo Gasparini, Federica Ricci, Tiziana Enrica Mongini, Rita Selvatici, Alessandra Ferlini, Francesca Gualandi
Format:	Artigo
Jezik:	Inglês
Izdano:	MDPI AG 2025-10-01
Serija:	Biomolecules
Teme:	collagen VI-related myopathy <i>COL6A1</i> gene <i>COL6A2</i> gene <i>COL6A3</i> gene
Online dostop:	https://www.mdpi.com/2218-273X/15/10/1426
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