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Characterization of the Severe Phenotype of COL6-related Dystrophy Due to the Recurrent Deep Intronic Pseudoexon-Inducing Variant COL6A1 C.930+189c>t

A. Foley,V. Bolduc,F. Guirguis,S. Donkervoort, Y. Hu, R. Orbach,P. Mohassel, H. Zhou,S. Aguti,C. Jimenez-Mallebrera,S. Lamande,V. Allamand,F. Gualandi,A. Ferlini,S. Wilton,R. Wagener, E. Bertini,F. Muntoni,C. Bonnemann

NEUROMUSCULAR DISORDERS（2024）

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