Amyotrophic lateral sclerosis (ALS) is a fatal disease that causes the deterioration of motor neurons , death is usually due to respiratory paralysis. The variant R522S was chosen because it is near a..
Amyotrophic lateral sclerosis (ALS) is a fatal disease that causes the deterioration of motor neurons , death is usually due to respiratory paralysis. The variant R522S was chosen because it is near a hot spot of pathogenic variants. It is an arginine-to-serine swap, this swap is present in pathogenic variants near the 522 position, such as R514S, R521S, R524S. Recent evidence suggests that arginine-deficiency can influence disease progression.
