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Morphological spectrum and clinical features of myopathies with tubular aggregates

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dc.contributor.authorFunk, Fabian
dc.contributor.authorCeuterick-de Groote, Chantal
dc.contributor.authorMartin, Jean-Jacques
dc.contributor.authorMeinhardt, Axel
dc.contributor.authorTaratuto, Ana L.
dc.contributor.authorDe Bleecker, Jan
dc.contributor.authorCoster, Rudy Van
dc.contributor.authorDe Paepe, Boel
dc.contributor.authorSchara, Ulrike
dc.contributor.authorVorgerd, Matthias
dc.contributor.authorHäusler, Martin
dc.contributor.authorKoppi, Stefan
dc.contributor.authorMaschke, Matthias
dc.contributor.authorDe Jonghe, Peter
dc.contributor.authorMaldergem, Lionel Van
dc.contributor.authorNoel, Stéphane
dc.contributor.authorZimmermann, Christoph W.
dc.contributor.authorWirth, Stefan
dc.contributor.authorIsenmann, Stefan
dc.contributor.authorStadler, Rudolf
dc.contributor.authorSchröder, J. Michael
dc.contributor.authorSchulz, Jörg B.
dc.contributor.authorWeis, Joachim
dc.contributor.authorClaeys, Kristl G.
dc.date.accessioned2018-06-26T17:38:46Z
dc.date.available2018-06-26T17:38:46Z
dc.date.issued2013
dc.description.abstractTubular aggregates (TAs) are aggregates of densely packed tubules in human skeletal muscle fibers with particular histochemical and ultrastructural features that most probably arise from the sarcoplasmic reticulum. Some studies have shown an additional mitochondrial origin of TAs. We studied the histopathological spectrum and clinical features in a large cohort of patients with TAs in their muscle biopsy (106 biopsies), derived from our muscle biopsy archive (15,412 biopsies in total). In particular, we examined light microscopic, enzyme histochemical, immunohistochemical and ultrastructural features in the muscle biopsies, as well as the patients’ clinical data. We found TAs in 0.5% of all muscle biopsies. Based on the size of TAs, we identified two sub-groups: (1) myopathies with large TAs (29 biopsies) in type 2 fibers and sometimes also in type 1 fibers, absence of any other associated disorder, and a familial history in half of the cases, and (2) myopathies with small TAs (77 biopsies), exclusively in type 2 fibers, presence of another associated disease in the majority of patients and mostly no familial history. In the sub-group with large TAs, we observed a high variability of ultrastructural changes. The most frequent clinical symptom in both groups was limb muscle weakness. No significant differences in clinical presentation, age at onset or disease duration at the time of biopsy were found between the two groups. In conclusion, myopathies with TAs can be sub-divided into a group with large TAs, probably corresponding to the so-called primary TA myopathies, and into a group with small TAs as a feature of another underlying condition.es
dc.formatapplication/pdfes
dc.format.extent14es
dc.identifier.citationHistology and Histopathology, vol. 28, nº 8 (2013)
dc.identifier.issn1699-5848
dc.identifier.issn0213-3911
dc.identifier.urihttp://hdl.handle.net/10201/59662
dc.languageenges
dc.publisherF. Hernández y Juan F. Madrid. Universidad de Murcia. Departamento de Biología Celular e Histologíaes
dc.rightsinfo:eu-repo/semantics/openAccesses
dc.subjectTubular aggregate myopathyes
dc.subjectTAMes
dc.subject.otherCDU::5 - Ciencias puras y naturales::57 - Biología::576 - Biología celular y subcelular. Citologíaes
dc.titleMorphological spectrum and clinical features of myopathies with tubular aggregateses
dc.typeinfo:eu-repo/semantics/articlees
dspace.entity.typePublicationes
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Histology and histopathology Vol.28, nº 8 (2013)