FMR1 and proximal spinal muscular atrophy: In this study, we detected that 1 male partner and female partner pair carried the AGL (glycogen storage disease type III) mutation gene, and 2 pairs were both carriers of the SMA pathogenic gene, 1 patient was a carrier of a full mutation of the FMR1 gene, 1 patient carried the pre‐FMR1 mutation, and 4 patients were carriers of the FMR1 intermediate type.