Before any muscle biopsy and complete work of muscle disorders, based on the institutional protocol, the patient was enrolled in the CROseq program for joint WGS analysis, which did not identify variants in any of the genes associated with distal myopathies in the differential diagnosis of ANO5 muscle disease [2] (i.e., DYSF, GNE, LDB3, MYH7, MYOT, TIA1, TTN). Here, DYSF is linked to muscular disease.