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Letter to the Editor
Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults
Nueva variante probablemente patogénica c.1249A>C en el exón 7 del gen GAA asociada a la enfermedad de Pompe del adulto
J.C. Roche Buenoa,
Corresponding author
jcrochebueno@gmail.com

Corresponding author.
, C. Arcos Sáncheza, F. Salgado Álvarez de Sotomayora, S. Izquierdo-Álvarezb, M.D. Miramar Gallartb, J. Solera Garcíac
a Servicio de Neurología, Hospital General de la Defensa, Zaragoza, Spain
b Sección de Genética Clínica y Reproducción Asistida, Hospital Universitario Miguel Servet, Zaragoza, Spain
c Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Madrid, Spain
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ISSN: 21735808
Original language: English
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