Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G

Journal of Neuromuscular Diseases · Published 2026-07-28 · DOI 10.1177/22143602261453996

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Authors (28)

Rocio Nur Villar-Quiles, A. Reghan Foley, Corinne Metay, Rotem Orbach, Sandra Donkervoort, Beatrice Labella, Daniel Natera-de Benito, Andres Nascimento, Berta Estevez-Arias, Cecilia Jimenez-Mallebrera, Carlos Ortez, Cristina Domínguez-González, Alejandro Horga, Maria Itxaso Marti Carrera, Roberto Fernandez Torron, Sergei Kurbatov, Paulina Chausova, Aysylu Murtazina, Dmitrii Subbotin, Anna Kuchina, Rodrigo Frezzati, Alzira Carvalho, Anne Waschbisch, Valerie Allamand, Yaqun Zou, Pascale Richard, Carsten G Bönnemann, Tanya Stojkovic

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Publication details

Year

2026

Citation

Villar-Quiles, R., Foley, A., Metay, C., et al. (2026). Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G. Journal of Neuromuscular Diseases. https://doi.org/10.1177/22143602261453996

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