DOI: 10.3233/jnd-140060. PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling

10.3233/jnd-140060

Crossref journal-article

SAGE Publications

Journal of Neuromuscular Diseases (179)

Bibliography

Richard, P., Trollet, C., Gidaro, T., Demay, L., Brochier, G., Malfatti, E., Tom, F. M., Fardeau, M., Lafor, P., Romero, N., Martin-N, M.-L., Sol, G., Ferrer-Monasterio, X., Saint-Guily, J. L., & Eymard, B. (2015). PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy âConsequences in Clinical Diagnosis and Genetic Counselling. Journal of Neuromuscular Diseases, 2(2), 175â180.

Authors 15

Pascale Richard (first)
Capucine Trollet (additional)
Teresa Gidaro (additional)
Laurence Demay (additional)
Guy Brochier (additional)
Edoardo Malfatti (additional)
Fernando MS Tom (additional)
Michel Fardeau (additional)
Pascal Lafor (additional)
Norma Romero (additional)
Marie-Laure Martin-N (additional)
Guilhem Sol (additional)
Xavier Ferrer-Monasterio (additional)
Jean Lacau Saint-Guily (additional)
Bruno Eymard (additional)

References 24 Referenced 25

10.1097/00005053-191503000-00001 / J Nerv Ment Dis / Progressive vagus-glossopharyngeal paralysis with ptosis: A contribution to the group family diseases by Taylor (1915)
10.1056/NEJM196212202672501 / N Engl J Med / Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the evelids by Victor (1962)
10.1016/S0960-8966(97)00077-1 / Neuromuscul Disord / Recent studies on oculopharyngeal muscular dystrophy in Quebec by Bouchard (1997)
10.1093/brain/124.3.522 / Brain / Oculopharyngeal muscular dystrophy: Phenotypic and genotypic studies in a UK population by Hill (2001)
10.1111/ane.12244 / Acta Neurol Scand / Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy by Witting (2014)
10.1007/s00415-003-0201-6 / J Neurol / Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint by Van Der Sluijs (2003)
10.1159/000072861 / Cytogenet Genome Res / Oculopharyngeal muscular dystrophy: A late-onset polyalanine disease by Brais (2003)
10.1212/WNL.0b013e3181b388a3 / Neurology / Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes by Blumen (2009)
10.1002/1531-8249(199907)46:1<115::AID-ANA17>3.0.CO;2-O / Ann Neurol / Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease by Blumen (1999)
10.1007/s00415-011-6255-y / J Neurol / Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy by Dubbioso (2012)
10.2169/internalmedicine.50.5577 / Intern Med / Oculopharyngeal muscular dystrophy associated with dementia by Mizoi (2011)
10.1038/ng0298-164 / Nat Genet / Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy by Brais (1998)
10.1007/BF00692226 / Acta Neuropathol / Nuclear inclusions in oculopharyngeal dystrophy by Tome (1980)
10.1212/WNL.54.3.608 / Neurology / GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy by Mirabella (2000)
10.1007/s00415-006-0126-y / J Neurol / Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy by Muller (2006)
10.1007/s00439-004-1235-2 / Hum Genet / 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 by Robinson (2005)
10.1007/s00415-011-6374-5 / J Neurol / Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy by Tondo (2012)
10.1002/mus.20726 / Muscle Nerve / Variability of the recessive oculopharyngeal muscular dystrophy phenotype by Semmler (2007)
10.1016/j.nmd.2006.11.009 / Neuromuscul Disord / Siblings with recessive oculopharyngeal muscular dystrophy by Hebbar (2007)
10.1097/NEN.0b013e3182854c07 / J Neuropathol Exp Neurol / Atrophy, Fibrosis, and Increased PAX7-Positive Cells in Pharyngeal Muscles of Oculopharyngeal Muscular Dystrophy Patients by Gidaro (2013)
10.1016/j.clineuro.2008.02.007 / Clin Neurol Neurosurg / A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP) by Marsh (2008)
10.1136/bjo.2010.200378 / Br J Ophthalmol / Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland by Agarwal (2012)
10.1016/j.jfma.2011.06.017 / J Formos Med Assoc / Oculopharyngeal muscular dystrophy –an under-diagnosed disease in China? Report a China-born Chinese with PABPN1 mutation and epidemiology review of the literature by Chien (2012)
10.1016/j.nmd.2013.03.001 / Neuromuscul Disord / 191st ENMC International Workshop: Recent advances in oculopharyngeal muscular dystrophy research: From bench to bedside 8-10 June Naarden, The Netherlands by Raz (2013)

Dates

Type	When
Created	10 years, 3 months ago (May 29, 2015, 5:22 a.m.)
Deposited	5 months, 2 weeks ago (March 11, 2025, 1:58 a.m.)
Indexed	14 hours, 11 minutes ago (Aug. 31, 2025, 6:09 a.m.)
Issued	10 years, 2 months ago (June 4, 2015)
Published	10 years, 2 months ago (June 4, 2015)
Published Print	10 years, 2 months ago (June 4, 2015)

Funders 0

None

BibTeX

@article{Richard_2015, title={PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling}, volume={2}, ISSN={2214-3602}, url={http://dx.doi.org/10.3233/jnd-140060}, DOI={10.3233/jnd-140060}, number={2}, journal={Journal of Neuromuscular Diseases}, publisher={SAGE Publications}, author={Richard, Pascale and Trollet, Capucine and Gidaro, Teresa and Demay, Laurence and Brochier, Guy and Malfatti, Edoardo and Tom, Fernando MS and Fardeau, Michel and Lafor, Pascal and Romero, Norma and Martin-N, Marie-Laure and Sol, Guilhem and Ferrer-Monasterio, Xavier and Saint-Guily, Jean Lacau and Eymard, Bruno}, year={2015}, month=jun, pages={175–180} }

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