Overall, four variants passed all of the test filtering steps, HINT1: c.329_330dupAC p.V111Tfs∗32; PGAM2: c.119G>A p.R40Q; DYSF: c.959G>C p.W320S; and c.4794G>T p.K1598N (Figure 2 and Table 1). HINT1 mutations are associated with neuromyotonia and axonal neuropathy, and mutations in PGAM2 are associated with glycogen storage disease X. These disorders are autosomal recessive, and because only one variant was identified, these variants were not likely associated with the phenotype or consistent with the clinical presentation of the patient. Here, HINT1 is linked to glycogen storage disease due to phosphoglycerate mutase deficiency.