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https://hdl.handle.net/20.500.14279/14881
Πεδίο DC | Τιμή | Γλώσσα |
---|---|---|
dc.contributor.author | Papadopoulos, Constantinos | - |
dc.contributor.author | Zouvelou, Vasiliki | - |
dc.contributor.author | Papadimas, George Konstantinos | - |
dc.date.accessioned | 2019-08-07T11:45:21Z | - |
dc.date.available | 2019-08-07T11:45:21Z | - |
dc.date.issued | 2019 | - |
dc.identifier.citation | Acta myologica, 2019, vol. 38, no. 1, pp. 25-28 | en_US |
dc.identifier.issn | 11282460 | - |
dc.identifier.uri | https://hdl.handle.net/20.500.14279/14881 | - |
dc.description.abstract | Early joint contractures in childhood or adolescence irrespective of muscle weakness are usually found in Emery-Dreifuss muscular dystrophy and collagen-VI related diseases and only rarely in the early stages of other progressive muscular dystrophies. We report a patient presenting severe elbow contractures and a rigid-spine since his early childhood without any evident muscle weakness, who was diagnosed with facioscapulohumeral muscular dystrophy later in life. This case is interesting since there has been no report, to date, of patients with a phenotype resembling facioscapulohumeral muscular dystrophy also in association with early and prominent elbow contractures and spinal rigidity, since childhood, resembling Emery-Dreifuss muscular dystrophy. Our case further confirmed the phenotypic variability often observed in carriers of D4Z4 reduce allele, and highlights the complexity of a definitive diagnosis in these cases. | en_US |
dc.language.iso | en | en_US |
dc.relation.ispartof | Acta Myologica: Myopathies and Cardiomyopathies | en_US |
dc.rights | © Pacini Editore S.p.A | en_US |
dc.subject | Emery-Dreifuss muscular dystrophy | en_US |
dc.subject | facioscapulohumeral muscular dystrophy | en_US |
dc.subject | facioscapulohumeral muscular dystrophyj | en_US |
dc.title | Facio-scapulo-humeral muscular dystrophy with early joint contractures and rigid spine | en_US |
dc.type | Article | en_US |
dc.collaboration | National and Kapodistrian University of Athens | en_US |
dc.collaboration | Cyprus University of Technology | en_US |
dc.subject.category | Economics and Business | en_US |
dc.journals | Subscription | en_US |
dc.country | Greece | en_US |
dc.subject.field | Social Sciences | en_US |
dc.publication | Peer Reviewed | en_US |
dc.identifier.scopus | 2-s2.0-85069909627 | - |
dc.identifier.url | https://api.elsevier.com/content/abstract/scopus_id/85069909627 | - |
dc.relation.issue | 1 | en_US |
dc.relation.volume | 38 | en_US |
cut.common.academicyear | 2018-2019 | en_US |
dc.identifier.spage | 25 | en_US |
dc.identifier.epage | 28 | en_US |
item.fulltext | No Fulltext | - |
item.languageiso639-1 | en | - |
item.grantfulltext | none | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.cerifentitytype | Publications | - |
item.openairetype | article | - |
crisitem.journal.journalissn | 2532-1900 | - |
crisitem.journal.publisher | Pacini | - |
crisitem.author.dept | Department of Hospitality and Tourism Management | - |
crisitem.author.faculty | Faculty of Tourism Management, Hospitality and Entrepreneurship | - |
crisitem.author.orcid | 0000-0002-8725-3750 | - |
crisitem.author.parentorg | Faculty of Tourism Management, Hospitality and Entrepreneurship | - |
Εμφανίζεται στις συλλογές: | Άρθρα/Articles |
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