SCN4A and cutaneous mastocytosis: Sanger sequencing validated the association of <i>SCN4A</i> variants with the phenotype, affirming the AR nature of the compound heterozygous variants in both the carrier mother (c.3533G > T/p.Gly1178Val) and the father (c.4216G > A/p.Ala1406Thr).<h4>Conclusion</h4>Our report emphasizes the association of <i>novel</i> compound heterozygous mutations in <i>SCN4A</i> with myopathic features resembling CM, as supporting by muscle biopsy.