Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region

por Pagola-Lorz, Inmaculada, Vicente, Esther, Ibáñez, Berta, Torné, Laura, Elizalde-Beiras, Itsaso, Garcia-Solaesa, Virginia, García, Fermín, Delfrade, Josu, Jericó, Ivonne
Publicado en Orphanet J Rare Dis (2019)

A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population

por Garcia-Solaesa, Virginia, Serrano-Lorenzo, Pablo, Ramos-Arroyo, Maria Antonia, Blázquez, Alberto, Pagola-Lorz, Inmaculada, Artigas-López, Mercè, Arenas, Joaquín, Martín, Miguel A., Jericó-Pascual, Ivonne
Publicado en Genes (Basel) (2019)