Missense mutations found in SOD1, ANG, FUS/TLS, TARDBP, and CHMP2B.

Abbreviations: CON = control subjects, and N/A = not applicable. Mutations in SOD1, ANG, FUS/TLS, TARDBP, and CHMP2B were present in 2.7% of the PMA patients, 2.0% of the ALS patients, and 0.5% of the control subjects. No PMA patients were detected with mutations in multiple MND-associated genes. A Fisher’s exact test or Chi-square test was used to compare mutation frequencies between patients with PMA and ALS for each gene; no significant differences were detected (data not shown for simplicity).aCohort described in the present study.