I am new to this site (which, by the way, is incredible and full of great information) and am looking for some help if possible. My child was just diagnosed, at age 16 (almost 17). We just got the results of the genetic testing and the two mutations are w1282x (which I understand is common) and Q1291N (which the doctor said she was not familiar with and for which there is very little information). I am just curious if anyone has information on this other mututation. Thanks so much.