Abstract
Introduction Vitamin D works by binding to vitamin D receptor (VDR). The muscle involvement in hypovitaminosis D was broadly named osteomalacic myopathy. Methods A case control study involved 20 female patients diagnosed with osteomalacic myopathy compared with 15 age-matched healthy female controls. We assessed both for VDR genotype single-nucleotide polymorphisms (SNP) at 3 sites (ApaI, BsmI, and FokI). Results ApaI and BsmI genotypes distribution in both groups showed non-significant difference unlike FokI genotypes in which we found significantly higher percentages of single allele mutation in patients vs. controls. Conclusion The relation of VDR gene SNPs to muscle function was studied before but in healthy subjects. We tried to correlate if presence/absence of a certain mutation is responsible for the appearance of osteomalacic myopathy.