{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:51:34Z","timestamp":1790833894904,"version":"4.1.0"},"reference-count":75,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T00:00:00Z","timestamp":1616976000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Neurological and Psychiatric Disorders of National Center of Neurology and Psychiatry","award":["29-3, 2-4"],"award-info":[{"award-number":["29-3, 2-4"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Oculopharyngeal muscular dystrophy (OPMD) is a late-onset intractable myopathy, characterized by slowly progressive ptosis, dysphagia, and proximal limb weakness. It is caused by the abnormal expansion of the alanine-encoding (GCN)n trinucleotide repeat in the exon 1 of the polyadenosine (poly[A]) binding protein nuclear 1 gene (11\u201318 repeats in OPMD instead of the normal 10 repeats). As the disease progresses, the patients gradually develop a feeling of suffocation, regurgitation of food, and aspiration pneumonia, although the initial symptoms and the progression patterns vary among the patients. Autologous myoblast transplantation may provide therapeutic benefits by reducing swallowing problems in these patients. Therefore, it is important to assemble information on such patients for the introduction of effective treatments in nonendemic areas. Herein, we present a concise review of recent progress in clinical and pathological studies of OPMD and introduce an idea for setting up a nation-wide OPMD disease registry in Japan. Since it is important to understand patients\u2019 unmet medical needs, realize therapeutically targetable symptoms, and identify indices of therapeutic efficacy, our attempt to establish a unique patient registry of OPMD will be a helpful tool to address these urgent issues.<\/jats:p>","DOI":"10.3390\/jcm10071375","type":"journal-article","created":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T16:01:57Z","timestamp":1617033717000},"page":"1375","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":54,"title":["Recent Progress in Oculopharyngeal Muscular Dystrophy"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9315-3492","authenticated-orcid":false,"given":"Satoshi","family":"Yamashita","sequence":"first","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-8556, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,3,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1038\/ng0298-164","article-title":"Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy","volume":"18","author":"Brais","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_2","unstructured":"(2021, February 23). ClinicalTrials.gov, Available online: https:\/\/clinicaltrials.gov\/ct2\/results?cond=Oculopharyngeal+Muscular+Dystrophy&term=&cntry=&state=&city=&dist=."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/0960-8966(93)90119-5","article-title":"Clinical features of oculopharyngeal muscular dystrophy among Bukhara Jews","volume":"3","author":"Blumen","year":"1993","journal-title":"Neuromuscul. Disord."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"S5","DOI":"10.1016\/S0960-8966(97)00074-6","article-title":"Andre Barbeau and the oculopharyngeal muscular dystrophy in French Canada and North America","volume":"7","author":"Bouchard","year":"1997","journal-title":"Neuromuscul. Disord."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"2437","DOI":"10.1001\/jama.286.19.2437","article-title":"Oculopharyngeal muscular dystrophy in Hispanic New Mexicans","volume":"286","author":"Becher","year":"2001","journal-title":"JAMA"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1055\/s-2008-1040826","article-title":"Oculopharyngeal muscular dystrophy","volume":"19","author":"Brais","year":"1999","journal-title":"Semin. Neurol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"73","DOI":"10.3233\/JND-140045","article-title":"The Epidemiology of Neuromuscular Disorders: A Comprehensive Overview of the Literature","volume":"2","author":"Deenen","year":"2015","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"S53","DOI":"10.1016\/S0960-8966(97)00083-7","article-title":"Oculopharyngeal muscular dystrophy in Italy","volume":"7","author":"Meola","year":"1997","journal-title":"Neuromuscul. Disord."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"S96","DOI":"10.1016\/S0960-8966(97)00091-6","article-title":"Dysphagia in oculopharyngeal muscular dystrophy: A series of 22 French cases","volume":"7","author":"Perie","year":"1997","journal-title":"Neuromuscul. Disord."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"S57","DOI":"10.1016\/S0960-8966(97)00084-9","article-title":"Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency","volume":"7","author":"Porschke","year":"1997","journal-title":"Neuromuscul. Disord."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"S50","DOI":"10.1016\/S0960-8966(97)00082-5","article-title":"Oculopharyngeal muscular dystrophy in Uruguay","volume":"7","author":"Medici","year":"1997","journal-title":"Neuromuscul. Disord."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1093\/brain\/124.3.522","article-title":"Oculopharyngeal muscular dystrophy: Phenotypic and genotypic studies in a UK population","volume":"124","author":"Hill","year":"2001","journal-title":"Brain"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1007\/s00415-003-0201-6","article-title":"Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint","volume":"250","author":"Hoefsloot","year":"2003","journal-title":"J. Neurol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/bjo.2010.200378","article-title":"Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland","volume":"96","author":"Agarwal","year":"2012","journal-title":"Br. J. Ophthalmol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1546","DOI":"10.1007\/s00415-011-6374-5","article-title":"Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy","volume":"259","author":"Tondo","year":"2012","journal-title":"J. Neurol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"e247","DOI":"10.1111\/aos.12243","article-title":"Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: From initial ptosis to genetic testing","volume":"92","author":"Mensah","year":"2014","journal-title":"Acta Ophthalmol."},{"key":"ref_17","first-page":"748","article-title":"Oculopharyngeal muscular dystrophy among Bulgarian Jews: A new cluster?","volume":"15","author":"Blumen","year":"2013","journal-title":"Isr. Med. Assoc. J."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.jfma.2011.06.017","article-title":"Oculopharyngeal muscular dystrophy\u2014An under-diagnosed disease in China? Report a China-born Chinese with PABPN1 mutation and epidemiology review of the literature","volume":"111","author":"Chien","year":"2012","journal-title":"J. Formos. Med. Assoc."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1007\/s12017-014-8327-5","article-title":"Oculopharyngeal muscular dystrophy: Phenotypic and genotypic studies in a Chinese population","volume":"16","author":"Shan","year":"2014","journal-title":"Neuromolecular. Med."},{"key":"ref_20","first-page":"44","article-title":"Oculopharyngeal muscular dystrophy\u2014A genetically verified taiwanese family","volume":"33","author":"Huang","year":"2010","journal-title":"Chang Gung Med. J."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"556","DOI":"10.12809\/hkmj133739","article-title":"Oculopharyngeal muscular dystrophy: Underdiagnosed disease in Hong Kong","volume":"19","author":"Luk","year":"2013","journal-title":"Hong Kong Med. J."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.jocn.2005.12.036","article-title":"Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy","volume":"14","author":"Bae","year":"2007","journal-title":"J. Clin. Neurosci."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/j.jocn.2010.08.020","article-title":"Mutation and haplotype analysis of oculopharyngeal muscular dystrophy in Thai patients","volume":"18","author":"Pulkes","year":"2011","journal-title":"J. Clin. Neurosci."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.nmd.2004.10.016","article-title":"Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman","volume":"15","author":"Goh","year":"2005","journal-title":"Neuromuscul. Disord."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"349","DOI":"10.47102\/annals-acadmedsg.V47N8p349","article-title":"Oculopharyngeal Muscular Dystrophy in Singapore: Not So Rare","volume":"47","author":"Saini","year":"2018","journal-title":"Ann. Acad. Med. Singap."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1212\/WNL.46.3.773","article-title":"Oculopharyngeal muscular dystrophy in two unrelated Japanese families","volume":"46","author":"Uyama","year":"1996","journal-title":"Neurology"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"S41","DOI":"10.1016\/S0960-8966(97)00081-3","article-title":"Oculopharyngeal muscular dystrophy in Japan","volume":"7","author":"Uyama","year":"1997","journal-title":"Neuromuscul. Disord."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/S0960-8966(99)00104-2","article-title":"Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG)(11) in PABP2 gene","volume":"10","author":"Nagashima","year":"2000","journal-title":"Neuromuscul. Disord."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1212\/WNL.0000000000003554","article-title":"Neurologists of French Neuromuscular Reference Centers. Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy","volume":"88","author":"Richard","year":"2017","journal-title":"Neurology"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/ane.12244","article-title":"Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy","volume":"130","author":"Witting","year":"2014","journal-title":"Acta Neurol. Scand."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"2409","DOI":"10.2169\/internalmedicine.50.5577","article-title":"Oculopharyngeal muscular dystrophy associated with dementia","volume":"50","author":"Mizoi","year":"2011","journal-title":"Intern. Med."},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Nisbet, M.K., and Marshall, L. (2019). Oculopharyngeal muscular dystrophy (OPMD) and dementia in a 75-year-old female. BMJ Case Rep., 12.","DOI":"10.1136\/bcr-2019-230521"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1007\/s00415-011-6255-y","article-title":"Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy","volume":"259","author":"Dubbioso","year":"2012","journal-title":"J. Neurol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1002\/mus.1213","article-title":"Neurogenic involvement in a case of oculopharyngeal muscular dystrophy","volume":"25","author":"Boukriche","year":"2001","journal-title":"Muscle Nerve"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.nmd.2015.12.009","article-title":"The Dutch patients\u2019 perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments","volume":"26","author":"Knoop","year":"2016","journal-title":"Neuromuscul. Disord."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1002\/mus.20726","article-title":"Variability of the recessive oculopharyngeal muscular dystrophy phenotype","volume":"35","author":"Semmler","year":"2007","journal-title":"Muscle Nerve"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1016\/j.clinph.2010.01.022","article-title":"Clinical and electrophysiologic features of oculopharyngeal muscular dystrophy: Lack of evidence for an associated peripheral neuropathy","volume":"121","author":"Jones","year":"2010","journal-title":"Clin. Neurophysiol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"2406","DOI":"10.1016\/j.clinph.2015.03.005","article-title":"Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features","volume":"126","author":"Luigetti","year":"2015","journal-title":"Clin. Neurophysiol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"S63","DOI":"10.1016\/S0960-8966(97)00085-0","article-title":"Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy","volume":"7","author":"Tome","year":"1997","journal-title":"Neuromuscul. Disord."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1288\/00005537-198604000-00006","article-title":"Oculopharyngeal muscular dystrophy: Recent ultrastructural evidence for mitochondrial abnormalities","volume":"96","author":"Pratt","year":"1986","journal-title":"Laryngoscope"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1002\/mus.880141004","article-title":"Mitochondrial abnormalities in oculopharyngeal muscular dystrophy","volume":"14","author":"Pauzner","year":"1991","journal-title":"Muscle Nerve"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1159\/000077070","article-title":"Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy","volume":"51","author":"Gambelli","year":"2004","journal-title":"Eur. Neurol."},{"key":"ref_43","doi-asserted-by":"crossref","unstructured":"Galimberti, V., Tironi, R., Lerario, A., Scali, M., Del Bo, R., Rodolico, C., Brizzi, T., Gibertini, S., Maggi, L., and Mora, M. (2019). Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy. Eur. J. Neurol.","DOI":"10.1111\/ene.14131"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1007\/s00415-011-5937-9","article-title":"Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy","volume":"258","author":"Fischmann","year":"2011","journal-title":"J. Neurol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1097\/01.cnd.0000152060.57673.25","article-title":"Magnetic resonance imaging and computed tomography of skeletal muscles in oculopharyngeal muscular dystrophy","volume":"6","author":"King","year":"2005","journal-title":"J. Clin. Neuromuscul. Dis."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1136\/jnnp-2018-319578","article-title":"Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy","volume":"90","author":"Kroon","year":"2019","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1007\/BF00261275","article-title":"Manometric characteristics of the pharynx, upper esophageal sphincter, esophagus, and lower esophageal sphincter in patients with oculopharyngeal muscular dystrophy","volume":"10","author":"Castell","year":"1995","journal-title":"Dysphagia"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1007\/s00455-018-9904-9","article-title":"A Preliminary Videofluoroscopic Investigation of Swallowing Physiology and Function in Individuals with Oculopharyngeal Muscular Dystrophy (OPMD)","volume":"33","author":"Waito","year":"2018","journal-title":"Dysphagia"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"e13251","DOI":"10.1111\/nmo.13251","article-title":"Oropharyngeal dysphagia profiles in individuals with oculopharyngeal muscular dystrophy","volume":"30","author":"Tabor","year":"2018","journal-title":"Neurogastroenterol. Motil."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.bbadis.2006.10.003","article-title":"Oculopharyngeal muscular dystrophy: Recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies","volume":"1772","author":"Rouleau","year":"2007","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"4230","DOI":"10.1111\/febs.12294","article-title":"PABPN1: Molecular function and muscle disease","volume":"280","author":"Banerjee","year":"2013","journal-title":"FEBS J."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"14848","DOI":"10.1038\/ncomms14848","article-title":"PABPN1 gene therapy for oculopharyngeal muscular dystrophy","volume":"8","author":"Malerba","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"3301","DOI":"10.1093\/hmg\/ddz167","article-title":"Established PABPN1 intranuclear inclusions in OPMD muscle can be efficiently reversed by AAV-mediated knockdown and replacement of mutant expanded PABPN1","volume":"28","author":"Malerba","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1002\/jcsm.12438","article-title":"Inhibition of myostatin improves muscle atrophy in oculopharyngeal muscular dystrophy (OPMD)","volume":"10","author":"Harish","year":"2019","journal-title":"J. Cachexia Sarcopenia Muscle"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"184","DOI":"10.3389\/fphys.2020.00184","article-title":"Inhibition of Myostatin Reduces Collagen Deposition in a Mouse Model of Oculopharyngeal Muscular Dystrophy (OPMD) with Established Disease","volume":"11","author":"Harish","year":"2020","journal-title":"Front. Physiol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1126\/scitranslmed.3000723","article-title":"Cystamine suppresses polyalanine toxicity in a mouse model of oculopharyngeal muscular dystrophy","volume":"2","author":"Davies","year":"2010","journal-title":"Sci. Transl. Med."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1038\/nm1242","article-title":"Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice","volume":"11","author":"Davies","year":"2005","journal-title":"Nat. Med."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1093\/hmg\/ddi422","article-title":"Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy","volume":"15","author":"Davies","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1694","DOI":"10.1093\/hmg\/ddz007","article-title":"Pharmacological modulation of the ER stress response ameliorates oculopharyngeal muscular dystrophy","volume":"28","author":"Malerba","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1849","DOI":"10.1093\/hmg\/ddp101","article-title":"Prevention of oculopharyngeal muscular dystrophy by muscular expression of Llama single-chain intrabodies in vivo","volume":"18","author":"Chartier","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1016\/j.nbd.2007.02.004","article-title":"Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy","volume":"26","author":"Messaed","year":"2007","journal-title":"Neurobiol. Dis."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1093\/hmg\/10.11.1129","article-title":"The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression","volume":"10","author":"Kim","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_63","first-page":"e551","article-title":"Valproic acid is protective in cellular and worm models of oculopharyngeal muscular dystrophy","volume":"91","author":"Parker","year":"2018","journal-title":"Neurology"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/j.nmd.2006.07.022","article-title":"Premature proliferative arrest of cricopharyngeal myoblasts in oculo-pharyngeal muscular dystrophy: Therapeutic perspectives of autologous myoblast transplantation","volume":"16","author":"Perie","year":"2006","journal-title":"Neuromuscul. Disord."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1038\/mt.2013.155","article-title":"Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: A phase I\/IIa clinical study","volume":"22","author":"Perie","year":"2014","journal-title":"Mol. Ther."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"3235","DOI":"10.1093\/hmg\/ddx206","article-title":"Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology","volume":"26","author":"Vest","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1728","DOI":"10.1038\/s41374-019-0243-8","article-title":"Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy","volume":"99","author":"Doki","year":"2019","journal-title":"Lab. Invest."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/0022-510X(82)90001-6","article-title":"Oculopharyngeal muscular dystrophy. An autopsied case from the French-Canadian kindred","volume":"53","author":"Little","year":"1982","journal-title":"J. Neurol. Sci."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1002\/mus.24932","article-title":"The relationship between physical symptoms and health-related quality of life in oculopharyngeal muscular dystrophy","volume":"53","author":"Youssof","year":"2016","journal-title":"Muscle Nerve"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1002\/mus.25441","article-title":"Dysphagia-related quality of life in oculopharyngeal muscular dystrophy: Psychometric properties of the SWAL-QOL instrument","volume":"56","author":"Youssof","year":"2017","journal-title":"Muscle Nerve"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1002\/mus.24123","article-title":"Safety of botulinum toxin for dysphagia in oculopharyngeal muscular dystrophy","volume":"49","author":"Youssof","year":"2014","journal-title":"Muscle Nerve"},{"key":"ref_72","first-page":"11","article-title":"Correction of blepharoptosis in oculopharyngeal muscular dystrophy: Review of 91 cases","volume":"28","author":"Molgat","year":"1993","journal-title":"Can. J. Ophthalmol."},{"key":"ref_73","unstructured":"Gliklich, R., and Dreyer, N. (2010). Registries for Evaluating Patient Outcomes: A User\u2019s Guide. Agency for Healthcare Research and Quality, AHRQ Publication."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1186\/1750-1172-8-60","article-title":"Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)","volume":"8","author":"Nakamura","year":"2013","journal-title":"Orphanet J. Rare. Dis."},{"key":"ref_75","first-page":"269","article-title":"The NIH Office of Rare Diseases Research patient registry Standard: A report from the University of New Mexico\u2019s Oculopharyngeal Muscular Dystrophy Patient Registry","volume":"2013","author":"Daneshvari","year":"2013","journal-title":"AMIA Annu. Symp. Proc."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/10\/7\/1375\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T13:33:09Z","timestamp":1760362389000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/10\/7\/1375"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,29]]},"references-count":75,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2021,4]]}},"alternative-id":["jcm10071375"],"URL":"https:\/\/doi.org\/10.3390\/jcm10071375","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,29]]}}}