On the basis of cytoskeletal and vesicular defects seen in other NMJ/neurodegenerative disorders, including various sub-types of ALS such as ALS2 and other familial forms, as well as CMT2E, we hypothesized that loss of MYO9A might cause a similar effect in CMS and would lead to a disrupted cytoskeleton in our in vitro NSC-34 cell model (20–22). This evidence concerns the gene ALS2 and amyotrophic lateral sclerosis.