Importantly, mutations of the CHCHD10 gene have been associated with frontotemporal dementia and/or amyotrophic lateral sclerosis-2 (FTD/ALS2), myopathy and spinal muscular atrophy (SMA) (Bannwarth et al. 2014a; Johnson et al. 2014). This evidence concerns the gene CHCHD10 and myopathy.