Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy
Author:
Publisher
Elsevier BV
Subject
Physiology (medical),Neurology (clinical),Neurology,General Medicine,Surgery
Reference12 articles.
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2. Autosomal recessive oculopharyngeal muscular dystrophy;Fried;J Med Genet,1975
3. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy;Brais;Nat Genet,1998
4. Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy;Uyama;Muscle Nerve,2000
5. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population;Hill;Brain,2001
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1. Single (GCN)11/Ala11 Allele Induces Incomplete Oculopharyngeal Muscular Dystrophy Presenting Atypical Disease Course;Korean Journal of Neuromuscular Disorders;2021-06-30
2. Recent Progress in Oculopharyngeal Muscular Dystrophy;Journal of Clinical Medicine;2021-03-29
3. Oculopharyngeal Muscular Dystrophy, an Often Misdiagnosed Neuromuscular Disorder: A Southern California Experience;Journal of Clinical Neuromuscular Disease;2019-12
4. Oculopharyngeal Muscular Dystrophy in Singapore: Not So Rare;Annals of the Academy of Medicine, Singapore;2018-08-15
5. Abdominal paradox encountered in neuromuscular disease: A possible clue for cor pulmonale;Journal of Cardiology Cases;2013-03
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