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dc.contributor.author Angelini, Corrado
dc.contributor.author Marozzo, Roberta
dc.contributor.author Pinzan, Elena
dc.contributor.author Pegoraro, Valentina
dc.contributor.author Molnar, Maria Judit
dc.contributor.author Torella, Annalaura
dc.contributor.author Nigro, Vincenzo
dc.date.accessioned 2019-11-21T12:02:47Z
dc.date.available 2019-11-21T12:02:47Z
dc.date.issued 2019
dc.identifier.citation journalVolume=12;journalTitle=THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS;pagerange= Paper. UNSP 1756286419850433;journalAbbreviatedTitle=THER ADV NEUROL DISO;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/7114
dc.identifier.uri doi:10.1177/1756286419850433
dc.description.abstract We describe a family with a novel TNPO3 mutation of limb-girdle muscular dystrophy D2 (or LGMD 1F), a rare muscle disorder with autosomal dominant inheritance, first identified in an Italo-Spanish family where the causative defect has been found to be due to TNPO3 gene mutation, encoding transportin-3 protein (TNPO3). We present the clinical, histopathological and muscle magnetic resonance imaging (MRI) features in two patients, mother and son Hungarian origin, affected by LGMD D2 and correlate their clinical, MRI and histopathological data found in this condition. The affected son presented early pelvic girdle muscle weakness and thin muscles similar to a congenital myopathy; the mother was less compromised and had an LGMD phenotype. Muscle MRI showed a very pronounced lower limb muscle atrophy in both patients. The most relevant change obtained in the child muscle biopsy was a generalized type 1 fibre atrophy. The two patients presented the same mutation, but a different phenotype has been observed in mother and son.
dc.title A new family with transportinopathy: increased clinical heterogeneity
dc.type Journal Article
dc.date.updated 2019-07-01T11:44:48Z
dc.language.rfc3066 en
dc.rights.holder NULL
dc.identifier.mtmt 30727529
dc.identifier.pubmed 31217819
dc.contributor.institution Neurológiai Klinika
dc.contributor.institution Genomikai Medicina és Ritka Betegségek Intézete


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