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Πεδίο DCΤιμήΓλώσσα
dc.contributor.authorPapadopoulos, Constantinos-
dc.contributor.authorZouvelou, Vasiliki-
dc.contributor.authorPapadimas, George Konstantinos-
dc.date.accessioned2019-08-07T11:45:21Z-
dc.date.available2019-08-07T11:45:21Z-
dc.date.issued2019-
dc.identifier.citationActa myologica, 2019, vol. 38, no. 1, pp. 25-28en_US
dc.identifier.issn11282460-
dc.identifier.urihttps://hdl.handle.net/20.500.14279/14881-
dc.description.abstractEarly 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.isoenen_US
dc.relation.ispartofActa Myologica: Myopathies and Cardiomyopathiesen_US
dc.rights© Pacini Editore S.p.Aen_US
dc.subjectEmery-Dreifuss muscular dystrophyen_US
dc.subjectfacioscapulohumeral muscular dystrophyen_US
dc.subjectfacioscapulohumeral muscular dystrophyjen_US
dc.titleFacio-scapulo-humeral muscular dystrophy with early joint contractures and rigid spineen_US
dc.typeArticleen_US
dc.collaborationNational and Kapodistrian University of Athensen_US
dc.collaborationCyprus University of Technologyen_US
dc.subject.categoryEconomics and Businessen_US
dc.journalsSubscriptionen_US
dc.countryGreeceen_US
dc.subject.fieldSocial Sciencesen_US
dc.publicationPeer Revieweden_US
dc.identifier.scopus2-s2.0-85069909627-
dc.identifier.urlhttps://api.elsevier.com/content/abstract/scopus_id/85069909627-
dc.relation.issue1en_US
dc.relation.volume38en_US
cut.common.academicyear2018-2019en_US
dc.identifier.spage25en_US
dc.identifier.epage28en_US
item.fulltextNo Fulltext-
item.languageiso639-1en-
item.grantfulltextnone-
item.openairecristypehttp://purl.org/coar/resource_type/c_6501-
item.cerifentitytypePublications-
item.openairetypearticle-
crisitem.journal.journalissn2532-1900-
crisitem.journal.publisherPacini-
crisitem.author.deptDepartment of Hospitality and Tourism Management-
crisitem.author.facultyFaculty of Tourism Management, Hospitality and Entrepreneurship-
crisitem.author.orcid0000-0002-8725-3750-
crisitem.author.parentorgFaculty of Tourism Management, Hospitality and Entrepreneurship-
Εμφανίζεται στις συλλογές:Άρθρα/Articles
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