Article
LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients.
Genes - 4 Aug 2022
Kosac Ana, Pesovic Jovan, Radenkovic Lana, Brkusanin Milos, Radovanovic Nemanja, Djurisic Marina, Radivojevic Danijela, Mladenovic Jelena, Ostojic Slavica, Kovacevic Gordana, Kravljanac Ruzica, Savic Pavicevic Dusanka, Milic Rasic Vedrana
Abstract excerpt
BACKGROUND: Clinical course variability in Duchenne muscular dystrophy (DMD) is partially explained by the mutation location in the DMD gene and variants in modifier genes. We assessed the effect of the SPP1, CD40, and LTBP4 genes and DMD mutation location on loss of ambulation (LoA). METHODS: SNPs in SPP1-rs28357094, LTBP4-rs2303729, rs1131620, rs1051303, rs10880, and CD40- were genotyped, and their...