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

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

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 aver...

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Veröffentlicht in:Annals of neurology 1999-07, Vol.46 (1), p.115-118
Hauptverfasser: Blumen, Sergiu C., Brais, Bernard, Korczyn, Amos D., Medinsky, Susan, Chapman, Joab, Asherov, Alexander, Nisipeanu, Puiu, Codère, François, Bouchard, Jean-Pierre, Fardeau, Michel, Tomé, Fernando M. S., Rouleau, Guy A.
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Age Distribution
Age of Onset
Biological and medical sciences
DNA Mutational Analysis
Female
Haplotypes
Homozygote
Humans
Male
Medical sciences
Middle Aged
Muscular Dystrophies - genetics
Oculomotor disorders
Oculomotor Muscles
Ophthalmology
Pedigree
Pharyngeal Muscles
Phenotype
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Zusammenfassung: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
ISSN:0364-5134
1531-8249
DOI:10.1002/1531-8249(199907)46:1<115::AID-ANA17>3.0.CO;2-O