Casuística
Distrofia muscular de Emery-Dreifuss: la importancia de un estudio ordenado a partir de la clínica y una correcta caracterización etiológico-molecular
Emery-Dreifuss muscular dystrophy: The importance of an orderly study based on clinical and correct etiological and molecular characterization
Victoria Zubiria,
, Omar Gerardia, Nancy Medinab,c, Ana Lia Taratutod,e, Janina Huamanchumo Fiestasa, Matias Lopeza, Victoria Aldinioa, Guadalupe Gargiuloa, Dolores González Morónb, Marta Córdobab, Sergio A. Rodríguez Quirogab, Gabriel Volmana, Marcelo A. Kauffmanb,f, Aquiles Uccellia
Autor para correspondencia
a Hospital Interzonal General de Agudos (HIGA) Presidente Perón de Avellaneda, Sarandi, Argentina
b Consultorio y Laboratorio de Neurogenética, División Neurología, Hospital J.M. Ramos Mejía, Buenos Aires, Argentina
c Centro de Investigación sobre Porfirinas y Porfirias-Universidad de Buenos Aires (CIPYP-UBA)-Hospital de Clínicas, Buenos Aires, Argentina
d Instituto de Investigaciones Neurológicas Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (FLENI), Buenos Aires, Argentina
e Hospital Nacional de Pediatría Juan P. Garrahan, Buenos Aires, Argentina
f Instituto de Biología Celular y Neurociencias(IBCN) E. Robertis, Universidad de Buenos Aires (UBA) Medicina-Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina
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