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Article

hnRNP A1 and A/B Interaction with PABPN1 in Oculopharyngeal Muscular Dystrophy

1 Aug 2003

Abstract excerpt

BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disorder characterized by progressive ptosis, dysphagia and proximal limb weakness. The autosomal dominant form of this disease is caused by short expansions of a (GCG)6 repeat to (GCG) in the PABPN1 gene. The mutations lead to the expansion of a polyalanine stretch from 10 to 12-17 alanines in the N-terminus of PABPN1. The mutated PABPN1...

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PMID: 12945950
DOI: 10.1017/s0317167100002675

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