Premium
Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease
Author(s) -
Blumen Sergiu C.,
Brais Bernard,
Korczyn Amos D.,
Medinsky Susan,
Chapman Joab,
Asherov Alexander,
Nisipeanu Puiu,
Codère François,
Bouchard JeanPierre,
Fardeau Michel,
Tomé Fernando M. S.,
Rouleau Guy A.
Publication year - 1999
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(199907)46:1<115::aid-ana17>3.0.co;2-o
Subject(s) - oculopharyngeal muscular dystrophy , medicine , muscular dystrophy , disease , physical medicine and rehabilitation , pediatrics , pathology
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%). Ann Neurol 1999;46:115–118