Title: Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity
Authors: Claeys, Kristl ×
Pellissier, Jean-François
Garcia-Bragado, Federico
Weis, Joachim
Urtizberea, Andoni
Poza, Juan-Jose
Cobo, Ana-Maria
Stoltenburg, Gisela
Figarella-Branger, Dominique
Willems, Patrick J
Depuydt, Christophe E
Kleiner, Wolfgang
Pouget, Jean
Piraud, Monique
Brochier, Guy
Romero, Norma B
Fardeau, Michel
Goebel, Hans H
Bönnemann, Carsten G
Voit, Thomas
Eymard, Bruno
Laforêt, Pascal #
Issue Date: Nov-2010
Publisher: Pergamon Press
Series Title: Neuromuscular Disorders vol:20 issue:11 pages:701-708
Article number: 10.1016/j.nmd.2010.06.006
Abstract: A novel myopathy characterized by hexagonally cross-linked tubular arrays has been reported in five patients. We studied the clinical and histopathological features of five additional unrelated patients with this myopathy. Patients experienced exercise intolerance with exercise-induced myalgia and weakness, without rhabdomyolysis. One patient additionally presented mild permanent pelvic girdle muscle weakness. Age at onset varied between 13 and 56 years. The inclusions were eosinophilic on H and E, bright red with modified Gomori's trichrome stains, present in type 2 fibers, and revealed immunoreactivity selectively for a caveolin-3-antibody. Ultrastructurally, the inclusions showed a highly organized, hexagonally cross-linked crystalloid structure. Mutations in the caveolin-3 encoding gene were excluded. Biochemical assessment of glycogenolysis in muscle was normal. Inherited or sporadic myopathy with hexagonally cross-linked tubular arrays is associated with a homogeneous clinical and histopathological phenotype. This myopathy should be included in the differential diagnosis of patients with exercise intolerance and myalgia.
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

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