| Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity. | |
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MedLine Citation:
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PMID: 20637616 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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; Jean Pouget; Monique Piraud; Guy Brochier; Norma B Romero; Michel Fardeau; Hans H Goebel; Carsten G Bönnemann; Thomas Voit; Bruno Eymard; Pascal Laforêt |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-07-15 |
Journal Detail:
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Title: Neuromuscular disorders : NMD Volume: 20 ISSN: 1873-2364 ISO Abbreviation: Neuromuscul. Disord. Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-10-11 Completed Date: 2011-01-21 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9111470 Medline TA: Neuromuscul Disord Country: England |
Other Details:
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Languages: eng Pagination: 701-8 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier B.V. All rights reserved. |
Affiliation:
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Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France. kclaeys@ukaachen.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Age of Onset Blotting, Western Caveolin 3 / genetics, metabolism Creatine Kinase / blood Exercise Female Humans Immunohistochemistry Male Middle Aged Muscle Weakness / genetics, metabolism, pathology* Muscle, Skeletal / metabolism, pathology* Muscular Diseases / genetics, metabolism, pathology* Phenotype |
| Chemical | |
Reg. No./Substance:
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0/Caveolin 3; EC 2.7.3.2/Creatine Kinase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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