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Novel mutation in the PYGM gene resulting in McArdle diseas:

Rubio, Juan Carlos ; Lucía Mulas, Alejandro ; Fernández-Cadenas, Israel...
Rubio, J. C., Lucía, A., Fernández-Cadenas, I., Cabello, A., Blázquez, A., Gámez, J., . & Arenas, J. (2006). Novel mutation in the PYGM gene resulting in McArdle disease. Archives of neurology, 63(12), 1782-1784..  , 2006