In BMD (dystrophin mutation), dysferlin mutation (DYSF, associated with mitochondrial function) [63], fukutin-related protein mutation (FKRP, associated with extracellular matrix) [64] and ALS (Table S1), ADNP transcript levels, although predictive of the pathology, not showing complete separation, increased compared with matched healthy controls. The gene discussed is ADNP; the disease is amyotrophic lateral sclerosis.