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  • Title: Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease.
    Author: Blumen SC, Brais B, Korczyn AD, Medinsky S, Chapman J, Asherov A, Nisipeanu P, Codère F, Bouchard JP, Fardeau M, Tomé FM, Rouleau GA.
    Journal: Ann Neurol; 1999 Jul; 46(1):115-8. PubMed ID: 10401788.
    Abstract:
    Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) usually begins with ptosis or dysphagia during the fifth or sixth decade of life. We studied 7 patients with OPMD symptoms starting before the age of 36 years. All were found to be homozygotes for the dominant (GCG)9 OPMD mutation. On average, disease onset was 18 years earlier than in heterozygotes, and patients had a significantly larger number of muscle nuclei containing intranuclear inclusions (INIs) (9.4 vs 4.9%).
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