Document Detail


Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
MedLine Citation:
PMID:  20637616     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
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; 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:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-07-15
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  20     ISSN:  1873-2364     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-10-11     Completed Date:  2011-01-21     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  England    
Other Details:
Languages:  eng     Pagination:  701-8     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Elsevier B.V. All rights reserved.
Affiliation:
Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France. kclaeys@ukaachen.de
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MeSH Terms
Descriptor/Qualifier:
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:
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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