These two forms account for about 20% of CMS cases combined.18 The DOK7 gene encodes for DOK7 protein, which is essential for postsynaptic specialization of the NMJ.19,20 CMS linked to DOK7 variants is most often inherited recessively and may result from missense, nonsense, splice site, and/or frameshifts mutations. Here, DOK7 is linked to congenital myasthenic syndrome.