Article
The genetic and clinical characteristics of oculopharyngeal muscular dystrophy patients in Israel.
Orphanet journal of rare diseases - 19 May 2026
Ben-David Merav, Greenbaum Lior, Nikitn Vera, Zvulunov Alex, Charas Hagit, Divon Naama, Barkan Tali, Chorin Odelia, Reznik-Wolf Haike, Zloto Ofira, Benyamini Limor, Shelly Shahar, Dori Amir
Abstract excerpt
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant myopathy, caused by a (GCN)n/polyalanine repeat expansion in the PABPN1 gene. In Israel, OPMD is particularly prevalent among individuals of Jewish Bukharian descent due to a (GCN)13 repeat expansion. In this retrospective study, we collected genetic and clinical data of OPMD patients who visited the Israeli reference clinic...
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