Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

Authors
Blumen, SC Brais, B Korczyn, AD Medinsky, S Chapman, J Asherov, A Nisipeanu, P Codere, F Bouchard, JP Fardeau, M Tome, FMS Rouleau, GA
Citation
Sc. Blumen et al., Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease, ANN NEUROL, 46(1), 1999, pp. 115-118
Citations number
19
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
ANNALS OF NEUROLOGY
ISSN journal
03645134 → ACNP
Volume
46
Issue
1
Year of publication
1999
Pages
115 - 118
Database
ISI
SICI code
0364-5134(199907)46:1<115:HFOMDH>2.0.ZU;2-D
Abstract
Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) usually begins with ptosis or dysphagia during the fifth or sixth decade of life. We stud ied 7 patients with OPMD symptoms starting before the age of 36 years. AU w ere found to be homozygotes for the dominant (GCG)(9) OPMD mutation. On ave rage, disease onset was 18 years earlier than in heterozygotes, and patient s had a significantly larger number of muscle nuclei containing intranuclea r inclusions (INIs) (9.4 vs 4.9%).