Genetic testing identified a heterozygous missense mutation in exon 3 of the ACTA1 gene (c.417G>C, p.Q139H; Table 1), a known pathogenic variant associated with NM.[9] A muscle biopsy was offered to the patient to provide histopathological confirmation of nemaline rods; however, after considering the invasive nature of the procedure, the financial burden, and the established genetic diagnosis, the patient declined. The gene discussed is ACTA1; the disease is nemaline myopathy.