Article
Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects.
The British journal of ophthalmology - 1 Jul 2008
Rivera D, Mejia-Lopez H, Pompa-Mera E N, Villanueva-Mendoza C, Nava-Castañeda A, Garnica-Hayashi L, Cuevas-Covarrubias S, Zenteno J C
Abstract excerpt
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late onset hereditary myopathy of autosomal dominant transmission characterised by ptosis, dysphagia and limb weakness. The disease is caused by short heterozygous expansions of a (GCN)(10) triplet located in the first exon of the PABPN1 gene at chromosome 14q11.1. Most affected individuals from North America and Europe carry a mutant (GCN)(13) allele....
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