Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease
García-Consuegra, Inés; Rubio, Juan Carlos; Nogales-Gadea, Gisela; Bautista, José M.; Jiménez Sáiz, Sergio Lorenzo; Cabello Sánchez, Ana Belén; Lucía Mulas, Alejandro; Andreu, Antoni L.; Arenas, Joaquín; Martín, Miguel Ángel