Title: Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
Authors: Claeys, Kristl ×
Fardeau, M
Schröder, R
Suominen, T
Tolksdorf, K
Behin, A
Dubourg, O
Eymard, B
Maisonobe, T
Stojkovic, T
Faulkner, G
Richard, P
Vicart, P
Udd, B
Voit, T
Stoltenburg, G #
Issue Date: Aug-2008
Publisher: Pergamon Press
Series Title: Neuromuscular Disorders vol:18 issue:8 pages:656-666
Article number: 10.1016/j.nmd.2008.06.367
Abstract: We studied the ultrastructural characteristics in patients with myofibrillar myopathy (MFM) and differentiated between MFM-subtypes using electron microscopic (EM) findings. The ultrastructural findings in 19 patients with different genetically proven MFMs (9 desmin, 5 alphaB-crystallin, 3 ZASP, 2 myotilin) were analyzed. In one ZASPopathy, we additionally performed an immunoEM study, using antibodies against desmin, alphaB-crystallin, ZASP and myotilin. The ultrastructural findings in desminopathies and alphaB-crystallinopathies were very similar and consisted of electrondense granulofilamentous accumulations and sandwich formations. They differed in the obvious presence of early apoptotic nuclear changes in alphaB-crystallinopathies. ZASPopathies were characterized by filamentous bundles (labeled with the myotilin antibody on immunoEM), and floccular accumulations of thin filamentous material. Tubulofilamentous inclusions in sarcoplasm and myonuclei in combination with filamentous bundles were characteristic for myotilinopathies. We conclude that MFMs ultrastructural findings can direct diagnostic efforts towards the causal gene mutated, and that EM should be included in the diagnostic workup of MFMs.
ISSN: 0960-8966
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Muscle Diseases and Neuropathies
× corresponding author
# (joint) last author

Files in This Item:
File Description Status SizeFormat
Claeys et al NMD 2008.pdf Published 2222KbAdobe PDFView/Open Request a copy

These files are only available to some KU Leuven Association staff members


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science