Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3080260 | Neuromuscular Disorders | 2010 | 8 Pages |
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 56Â 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.
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Authors
Kristl G. Claeys, Jean-François Pellissier, Federico Garcia-Bragado, Joachim Weis, Andoni Urtizberea, Juan-Jose Poza, Ana-Maria Cobo, Gisela Stoltenburg, Dominique Figarella-Branger, Patrick J. Willems, Christophe E. Depuydt, Wolfgang Kleiner,