Skip to main content Accessibility help
×
Home

An 18 Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy

  • L. Jouan (a1) (a2), D. Rocheford (a1) (a2), A. Szuto (a1) (a2), E. Carney (a3) (a4), K. David (a3) (a4), P.A. Dion (a1) (a2) (a5) and G.A. Rouleau (a1)...
    • Send article to Kindle

      To send this article to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle.

      Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

      Find out more about the Kindle Personal Document Service.

      An 18 Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy
      Available formats
      ×

      Send article to Dropbox

      To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Dropbox.

      An 18 Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy
      Available formats
      ×

      Send article to Google Drive

      To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Google Drive.

      An 18 Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy
      Available formats
      ×

Abstract

  • An abstract is not available for this content so a preview has been provided below. To view the full text please use the links above to select your preferred format.

Copyright

Corresponding author

Montreal Neurological Institute and Hospital, 3801 University St., Room 636, Montreal, Quebec, H3A 2B4, Canada. Email: guy.rouleau@mcgill.ca.

References

Hide All
1.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;1772(2):173–85.
2.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;116(4):267–71.
3.Brais, B, Bouchard, JP, Xie, YG, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet. 1998;18(2):164–7.
4.Hebbar, S, Webberley, MJ, Lunt, P, Robinson, DO.Siblings with recessive oculopharyngeal muscular dystrophy. Neuromuscul Disord. 2007;17(3):254–7.
5.Hill, ME, Creed, GA, McMullan, TF, et al. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. Brain. 2001;124(Pt 3):522–6.
6.Semmler, A, Kress, W, Vielhaber, S, Schroder, R, Kornblum, C.Variability of the recessive oculopharyngeal muscular dystrophy phenotype. Muscle Nerve. 2007;35(5):681–4.
7.Tondo, M, Gamez, J, Gutierrez-Rivas, E, Medel-Jimenez, R, Martorell, L.Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy. J Neurol. 2012;259(8):1546–52.
8.Becher, MW, Morrison, L, Davis, LE, et al. Oculopharyngeal muscular dystrophy in Hispanic New Mexicans. JAMA. 2001;286(19):2437–40.
9.Blumen, SC, Brais, B, Korczyn, AD, et al. Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Ann Neurol. 1999;46(1):115–18.
10.Blumen, SC, Sadeh, M, Korczyn, AD, et al. Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews. Neurology. 1996;46(5):1324–8.
11.Blumen, SC, Bouchard, JP, Brais, B, et al. Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes. Neurology. 2009;73(8):596601.
12.Dubbioso, R, Moretta, P, Manganelli, F, et al. Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy. J Neurol. 2012;259(5):833–7.

An 18 Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy

  • L. Jouan (a1) (a2), D. Rocheford (a1) (a2), A. Szuto (a1) (a2), E. Carney (a3) (a4), K. David (a3) (a4), P.A. Dion (a1) (a2) (a5) and G.A. Rouleau (a1)...

Metrics

Full text views

Total number of HTML views: 0
Total number of PDF views: 0 *
Loading metrics...

Abstract views

Total abstract views: 0 *
Loading metrics...

* Views captured on Cambridge Core between <date>. This data will be updated every 24 hours.

Usage data cannot currently be displayed