Further underscoring its clinical relevance, Ankrd1 expression is prominently upregulated in skeletal muscles affected by a range of myopathies including motor neuron diseases such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and Kennedy disease, as well as various muscular dystrophies such as Duchenne and Fukuyama congenital muscular dystrophy [76, 91–93]. The gene discussed is ANKRD1; the disease is proximal spinal muscular atrophy.