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

Sergiu C. Blumen; Bernard Brais; Amos D. Korczyn; Susan Medinsky; Joab Chapman; Alexander Asherov; Puiu Nisipeanu; François Codére; Jean Pierre Bouchard; Michel Fardeau; Fernando M.S. Tomé; Guy A. Rouleau

doi:10.1002/1531-8249(199907)46:1<115::AID-ANA17>3.0.CO;2-O

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

Sergiu C. Blumen^*, Bernard Brais, Amos D. Korczyn, Susan Medinsky, Joab Chapman, Alexander Asherov, Puiu Nisipeanu, François Codére, Jean Pierre Bouchard, Michel Fardeau, Fernando M.S. Tomé, Guy A. Rouleau

^*Corresponding author for this work

Physiology Pharmacology

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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%).

Original language	English
Pages (from-to)	115-118
Number of pages	4
Journal	Annals of Neurology
Volume	46
Issue number	1
DOIs	https://doi.org/10.1002/1531-8249(199907)46:1<115::AID-ANA17>3.0.CO;2-O
State	Published - 1999

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10.1002/1531-8249(199907)46:1<115::AID-ANA17>3.0.CO;2-O

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Blumen, S. C., Brais, B., Korczyn, A. D., Medinsky, S., Chapman, J., Asherov, A., Nisipeanu, P., Codére, F., Bouchard, J. P., Fardeau, M., Tomé, F. M. S., & Rouleau, G. A. (1999). Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Annals of Neurology, 46(1), 115-118. https://doi.org/10.1002/1531-8249(199907)46:1<115::AID-ANA17>3.0.CO;2-O

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AU - Blumen, Sergiu C.

AU - Brais, Bernard

AU - Korczyn, Amos D.

AU - Medinsky, Susan

AU - Chapman, Joab

AU - Asherov, Alexander

AU - Nisipeanu, Puiu

AU - Codére, François

AU - Bouchard, Jean Pierre

AU - Fardeau, Michel

AU - Tomé, Fernando M.S.

AU - Rouleau, Guy A.

PY - 1999

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

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