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| 1 | Rita Xu | + 671 word(s) | 671 | 2020-12-15 07:33:43 |
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Xu, R. Oculopharyngeal Muscular Dystrophy. Encyclopedia. Available online: https://encyclopedia.pub/entry/4659 (accessed on 28 September 2026).
Xu R. Oculopharyngeal Muscular Dystrophy. Encyclopedia. Available at: https://encyclopedia.pub/entry/4659. Accessed September 28, 2026.
Xu, Rita. "Oculopharyngeal Muscular Dystrophy" Encyclopedia, https://encyclopedia.pub/entry/4659 (accessed September 28, 2026).
Xu, R. (2020, December 24). Oculopharyngeal Muscular Dystrophy. In Encyclopedia. https://encyclopedia.pub/entry/4659
Xu, Rita. "Oculopharyngeal Muscular Dystrophy." Encyclopedia. Web. 24 December, 2020.
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Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40.
genetic conditions
References
- Blumen SC, Bouchard JP, Brais B, Carasso RL, Paleacu D, Drory VE, Chantal S,Blumen N, Braverman I. Cognitive impairment and reduced life span ofoculopharyngeal muscular dystrophy homozygotes. Neurology. 2009 Aug25;73(8):596-601. doi: 10.1212/WNL.0b013e3181b388a3.
- Cruz-Aguilar M, Guerrero-de Ferran C, Tovilla-Canales JL, Nava-Castañeda A,Zenteno JC. Characterization of PABPN1 expansion mutations in a large cohort ofMexican patients with oculopharyngeal muscular dystrophy (OPMD). J Investig Med. 2017 Mar;65(3):705-708. doi: 10.1136/jim-2016-000184.
- Richard P, Trollet C, Gidaro T, Demay L, Brochier G, Malfatti E, Tom FM,Fardeau M, Lafor P, Romero N, Martin-N ML, Sol G, Ferrer-Monasterio X,Saint-Guily JL, Eymard B. PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling. JNeuromuscul Dis. 2015 Jun 4;2(2):175-180.
- Richard P, Trollet C, Stojkovic T, de Becdelievre A, Perie S, Pouget J, EymardB; Neurologists of French Neuromuscular Reference Centers CORNEMUS and FILNEMUS. Correlation between PABPN1 genotype and disease severity in oculopharyngealmuscular dystrophy. Neurology. 2017 Jan 24;88(4):359-365. doi:10.1212/WNL.0000000000003554.
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