Article
Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres.
Human molecular genetics - 1 Jun 2010
Trollet Capucine, Anvar Seyed Yahya, Venema Andrea, Hargreaves Iain P, Foster Keith, Vignaud Alban, Ferry Arnaud, Negroni Elisa, Hourde Christophe, Baraibar Martin A, 't Hoen Peter A C, Davies Janet E, Rubinsztein David C, Heales Simon J, Mouly Vincent, van der Maarel Silvère M, Butler-Browne Gillian, Raz Vered, Dickson George
Abstract excerpt
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disorder characterized by ptosis, dysphagia and proximal limb weakness. Autosomal-dominant OPMD is caused by a short (GCG)(8-13) expansions within the first exon of the poly(A)-binding protein nuclear 1 gene (PABPN1), leading to an expanded polyalanine tract in the mutated protein. Expanded PABPN1 forms insoluble aggregates in the nuclei of skeletal...
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