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Title: Morphological spectrum and clinical features of myopathies with tubular aggregates
Authors: Funk, Fabian
Ceuterick-de Groote, Chantal
Martin, Jean-Jacques
Meinhardt, Axel
Taratuto, Ana L
de Bleecker, Jan
Van Coster, Rudy
De Paepe, Boel
Schara, Ulrike
Vorgerd, Matthias
Häusler, Martin
Koppi, Stefan
Maschke, Matthias
De Jonghe, Peter
Van Maldergem, Lionel
Noel, Stéphane
Zimmermann, Christoph W
Wirth, Stefan
Isenmann, Stefan
Stadler, Rudolf
Schröder, J Michael
Schulz, Jörg B
Weis, Joachim
Claeys, Kristl # ×
Issue Date: Aug-2013
Publisher: Gutenberg
Series Title: Histology and Histopathology vol:28 issue:8 pages:1041-1054
Abstract: Tubular 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.
URI: 
ISSN: 0213-3911
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Faculty of Kinesiology and Rehabilitation Sciences - miscellaneous
Faculty of Medicine - miscellaneous
× corresponding author
# (joint) last author

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