title: [The importance of genetic diagnosis in an atypical case of spinal muscular atrophy type I].
authors.affiliation: Servicio de Pediatría, Hospital Infantil Miguel Servet. paseo Isabel la Católica.
authors.forename: B
authors.initials: B
authors.lastname: Loureiro González
authors.forename: M L
authors.initials: ML
authors.lastname: Justa Roldán
authors.forename: S
authors.initials: S
authors.lastname: Rite García
authors.forename: A
authors.initials: A
authors.lastname: Marco Tello
authors.forename: M
authors.initials: M
authors.lastname: Calvo González
authors.forename: M
authors.initials: M
authors.lastname: Baiget Bastus
authors.forename: E
authors.initials: E
authors.lastname: Tizzano Ferrari
authors.forename: J
authors.initials: J
authors.lastname: López Pisón
mesh_terms: D005091:Exons / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics*
vernacular_title: Importancia del diagnóstico genético en un caso atípico de atrofia muscular espinal tipo I.