Distrofia muscular de Emery-Dreifuss: la importancia de un estudio ordenado a partir de la clínica y una correcta caracterización etiológico-molecular

Neurologia Argentina - Tập 7 - Trang 171-175 - 2015
Victoria Zubiri1, Omar Gerardi1, Nancy Medina2,3, Ana Lia Taratuto4,5, Janina Huamanchumo Fiestas1, Matias Lopez1, Victoria Aldinio1, Guadalupe Gargiulo1, Dolores González Morón2, Marta Córdoba2, Sergio A. Rodríguez Quiroga2, Gabriel Volman1, Marcelo A. Kauffman2,6, Aquiles Uccelli1
1Hospital Interzonal General de Agudos (HIGA) Presidente Perón de Avellaneda, Sarandi, Argentina
2Consultorio y Laboratorio de Neurogenética, División Neurología, Hospital J.M. Ramos Mejía, Buenos Aires, Argentina
3Centro de Investigación sobre Porfirinas y Porfirias-Universidad de Buenos Aires (CIPYP-UBA)-Hospital de Clínicas, Buenos Aires, Argentina
4Instituto de Investigaciones Neurológicas Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (FLENI), Buenos Aires, Argentina
5Hospital Nacional de Pediatría Juan P. Garrahan, Buenos Aires, Argentina
6Instituto 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

Tài liệu tham khảo

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