PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling-Reference-Cited by-同舟云学术

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

Published:2015-06-04 Issue:2 Volume:2 Page:175-180
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

Richard Pascale¹,Trollet Capucine²,Gidaro Teresa²,Demay Laurence¹,Brochier Guy³,Malfatti Edoardo³,Tom Fernando MS,Fardeau Michel³,Lafor Pascal,Romero Norma³,Martin-N Marie-Laure,Sol Guilhem,Ferrer-Monasterio Xavier⁴,Saint-Guily Jean Lacau⁵,Eymard Bruno⁶

Affiliation:

1. APHP, Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Service de Biochimie M?bolique, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, 47-83, bld de l’hôpital, Paris cedex 13, France/UMRS 956-UPMC, Paris 6, France

2. Sorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l’Hôpital,Paris, France

3. APHP, Unité de Morphologie Neuromusculaire, Pavillon Risler, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, Paris, France

4. CHU de Bordeaux, Centre de Référence des Maladies Neuromusculaires, Hôpital Pellegrin, Place Amelie Raba Leon, Bordeaux, France

5. APHP, Service d’ORL et chirurgie cervicofaciale, hôpital Tenon, UPMC Université Paris 6, 4 rue de la Chine, Paris, France

6. APHP, Centre de Référence des Maladies Neuromusculaires Paris Est, Unité de Morphologie Neuromusculaire, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, -83, bld de l’hôpital, Paris cedex 13, France

Publisher

IOS Press

Subject

Neurology (clinical),Neurology

Reference24 articles.

1. Progressive vagus-glossopharyngeal paralysis with ptosis: A contribution to the group family diseases;Taylor;J Nerv Ment Dis,1915

2. Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the evelids;Victor;N Engl J Med,1962

3. Recent studies on oculopharyngeal muscular dystrophy in Quebec;Bouchard;Neuromuscul Disord,1997

4. Oculopharyngeal muscular dystrophy: Phenotypic and genotypic studies in a UK population;Hill;Brain,2001

5. Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy;Witting;Acta Neurol Scand,2014

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