Indeed, MATR3 mutations have been associated with familial amyotrophic lateral sclerosis (ALS) and myopathies, including cardiac developmental defects (Johnson et al., 2014; Müller et al., 2014; Quintero-Rivera et al., 2015; Senderek et al., 2009). This evidence concerns the gene MATR3 and familial amyotrophic lateral sclerosis.