Control fibroblasts were grown from the skin of a 30-year-old healthy man who carried two copies of each of SMN1 and SMN2, and SMA fibroblasts were grown from the skin of a 13-year-old SMA female who carried three copies of SMN2 and no copy of SMN1. 7 In addition, control white blood cells were collected from a 21-year-old healthy female who carried two copies of SMN1 and no copy of SMN2. This study was approved by the Ethical Committee of Kobe University, and informed consent was obtained from the patient and her parents as well as the two healthy individuals. Here, SMN1 is linked to proximal spinal muscular atrophy.