Genetic Conditions > oculopharyngeal muscular dystrophy >

References

These sources were used to develop the Genetics Home Reference condition summary on oculopharyngeal muscular dystrophy.

Abu-Baker A, Rouleau GA. Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. Biochim Biophys Acta. 2007 Feb;1772(2):173-85. Epub 2006 Oct 11. Review. PubMed citation
Brais B. Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease. Cytogenet Genome Res. 2003;100(1-4):252-60. Review. PubMed citation
Müller T, Deschauer M, Kolbe-Fehr F, Zierz S. Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy. J Neurol. 2006 Jul;253(7):892-5. Epub 2006 Apr 20. PubMed citation
Robinson DO, Hammans SR, Read SP, Sillibourne J. Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism. Hum Genet. 2005 Mar;116(4):267-71. Epub 2005 Jan 12. PubMed citation
Robinson DO, Wills AJ, Hammans SR, Read SP, Sillibourne J. Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation. J Med Genet. 2006 May;43(5):e23. PubMed citation
Rüegg S, Lehky Hagen M, Hohl U, Kappos L, Fuhr P, Plasilov M, Müller H, Heinimann K. Oculopharyngeal muscular dystrophy - an under-diagnosed disorder? Swiss Med Wkly. 2005 Oct 1;135(39-40):574-86. Review. PubMed citation
Semmler A, Kress W, Vielhaber S, Schröder R, Kornblum C. Variability of the recessive oculopharyngeal muscular dystrophy phenotype. Muscle Nerve. 2007 May;35(5):681-4. PubMed citation


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