Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families

L. González-Mera, G. Ravenscroft, M. Cabrera-Serrano, N. Ermolova, C. Domínguez-González, A. Arteche-López, P. Soltanzadeh, F. Evesson, C. Navas, F. Mavillard, J. Clayton, P. Rodrigo, E. Servián-Morilla, S. T. Cooper, L. Waddell, K. Reardon, A. Corbett, A. Hernandez-Laín, A. Sanchez, J. Esteban PerezC. Paradas-Lopez, E. Rivas-Infante, M. Spencer, N. Laing, M. Olivé

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Biochemistry, Genetics and Molecular Biology