Vitamin D receptor gene polymorphism in patients with osteomalacic myopathy in Egypt.

Hossam M ShokriKarim O MohamedNagia A FahmyAhmed O MostafaAhmed Ghareeb

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2020)

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.

Keyphrases

late onset
genome wide
muscular dystrophy
skeletal muscle
copy number
early onset
dna methylation
genome wide identification
gene expression
transcription factor
solid state