Article
Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD).
Journal of investigative medicine : the official publication of the American Federation for Clinical Research - 1 Mar 2017
Cruz-Aguilar Marisa, Guerrero-de Ferran Caroline, Tovilla-Canales Jose Luis, Nava-Castañeda Angel, Zenteno Juan C
Abstract excerpt
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal-dominant, adult-onset disorder defined by blepharoptosis, dysphagia, and proximal muscle weakness. OPMD arises from heterozygous expansions of a trinucleotide (GCN) tract situated at the 5' region of the polyadenylate RNA binding protein 1 (PABPN1) gene. The frequency of a particular (GCN) expansion in a given population of patients with OPMD is largely...
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