Oculopharyngeal Muscular Dystrophy
What's New
Last Posted: Dec 22, 2016
- Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD).
Cruz-Aguilar Marisa, et al. Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2016 12 - [Haplotype Analysis of Oculopharyngeal Muscular Dystrophy (OPMD) Locus in Yakutia].
Marusin A V, et al. Genetika 2016 3 (3) 376-84 - Oculopharyngeal muscular dystrophy
From NCATS Genetic and Rare Diseases Information Center - Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population.
Hill M E, et al. Brain : a journal of neurology 2001 3 (Pt 3) 522-6
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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