Article
Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.
Genetic testing and molecular biomarkers - 1 Jul 2017
Braverman Itzhak, Blumen Sergiu C, Newman Hadas, Rizel Leah, Khayat Morad, Hanna Rana, St Guily Jean Lacau, Tiosano Beatrice, Ben-Yosef Tamar
Abstract excerpt
AIM: We have previously described two unrelated Bukhara Jews (BJs) with a combination of oculopharyngeal muscular dystrophy (OPMD) and inherited retinal dystrophy (IRD), because of mutations in two linked genes: PABPN1 and NRL. Here we investigated the prevalence of the NRL mutation among BJs with OPMD. MATERIALS AND METHODS: PABPN1 and NRL mutation testing were performed by polymerase chain reaction...
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