Oculopharyngeal muscular dystrophy – An under-diagnosed disease in China? Report a China-born Chinese with PABPN1 mutation and epidemiology review of the literature

Abu-Baker, 2007, Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies, Biochim Biophys Acta, 1772, 173, 10.1016/j.bbadis.2006.10.003 Bouchard, 1997, Recent studies on oculopharyngeal muscular dystrophy in Québec, Neuromuscul Disord, 7, S22, 10.1016/S0960-8966(97)00077-1 Tomé, 1997, Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy, Neuromuscul Disord, 7, S63, 10.1016/S0960-8966(97)00085-0 Isenberg, 1981, Familial late onset oculopharyngeal muscular dystrophy, Postgrad Med J, 57, 41, 10.1136/pgmj.57.663.41 Semmler, 2007, Variability of the recessive oculopharyngeal muscular dystrophy phenotype, Muscle Nerve, 35, 681, 10.1002/mus.20726 Taylor, 1915, Progressive vagus-glossopharyngeal paralysis with ptosis. Contribution to group of family diseases, J Nerv Ment Dis, 42, 129, 10.1097/00005053-191503000-00001 Victor, 1962, Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids, N Engl J Med, 267, 1267, 10.1056/NEJM196212202672501 Maksimova, 2008, The clinical-genealogic and molecular-genetic characteristics of oculopharyngeal muscular dystrophy in the Republic of Sakha (Yakutia), Zh Nevrol Psikhiatr Im S S Korsakova, 108, 52 Brais, 1999, Oculopharyngeal muscular dystrophy, Semin Neurol, 19, 59, 10.1055/s-2008-1040826 Blumen, 1997, Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel, Neuromuscul Disord, 71, S38, 10.1016/S0960-8966(97)00080-1 Xu, 1985, Relation between HLA and oculopharyngeal muscular dystrophy–study of a large family, Zhonghua Shen Jing Jing Shen Ke Za Zhi, 18, 326 Sarkar, 1995, Oculopharyngeal muscular dystrophy, Indian J Pediatr, 62, 496, 10.1007/BF02755075 Brais, 1998, Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy, Nat Genet, 18, 164, 10.1038/ng0298-164 Minami, 2001, Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy, Neuromuscul Disord, 11, 699, 10.1016/S0960-8966(01)00227-9 Kuo, 2009, Study of a Taiwanese family with oculopharyngeal muscular dystrophy, J Neurol Sci, 278, 21, 10.1016/j.jns.2008.11.001 Huang, 2010, Oculopharyngeal muscular dystrophy–a genetically verified Taiwanese family, Chang Gung Med J, 33, 44 Medici, 1997, Oculopharyngeal muscular dystrophy in Uruguay, Neuromuscul Disord, 7, S50, 10.1016/S0960-8966(97)00082-5 Fukuhara, 1982, Oculopharyngeal muscular dystrophy and distal myopathy. Intrafamilial difference in the onset and distribution of muscular involvement, Acta Neurol Scand, 65, 458, 10.1111/j.1600-0404.1982.tb03103.x Tamir, 1990, Oculopharyngeal muscular dystrophy, Harefuah, 118, 634 Puzyrev, 2008, Hereditary diseases among Yakuts, Genetika, 44, 1317 Liu, 2005, Pathological and molecular genetic studies on oculopharyngeal muscular dystrophy, Chin J Neurol, 38, 677 Chen, 2010, Phenotypic and genotypic studies in 6 Chinese Han families with oculopharyngeal muscular dystrophy, Chin J Neurol, 43, 702 You, 2010, Gene diagnosis of Oculopharyngeal muscular dystrophy in a Chinese family by a genescan method, J Clin Lab Anal, 24, 422, 10.1002/jcla.20423 Lim, 1992, Oculopharyngeal muscular dystrophy: a case report and a review of literature, Ann Acad Med Singapore, 21, 399 Goh, 2005, Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman, Neuromuscul Disord, 15, 262, 10.1016/j.nmd.2004.10.016