title: Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
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.
authors.affiliation: Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France. kclaeys@ukaachen.de
authors.forename: Kristl G
authors.initials: KG
authors.lastname: Claeys
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Pellissier
authors.forename: Federico
authors.initials: F
authors.lastname: Garcia-Bragado
authors.forename: Joachim
authors.initials: J
authors.lastname: Weis
authors.forename: Andoni
authors.initials: A
authors.lastname: Urtizberea
authors.forename: Juan-Jose
authors.initials: JJ
authors.lastname: Poza
authors.forename: Ana-Maria
authors.initials: AM
authors.lastname: Cobo
authors.forename: Gisela
authors.initials: G
authors.lastname: Stoltenburg
authors.forename: Dominique
authors.initials: D
authors.lastname: Figarella-Branger
authors.forename: Patrick J
authors.initials: PJ
authors.lastname: Willems
authors.forename: Christophe E
authors.initials: CE
authors.lastname: Depuydt
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Kleiner
authors.forename: Jean
authors.initials: J
authors.lastname: Pouget
authors.forename: Monique
authors.initials: M
authors.lastname: Piraud
authors.forename: Guy
authors.initials: G
authors.lastname: Brochier
authors.forename: Norma B
authors.initials: NB
authors.lastname: Romero
authors.forename: Michel
authors.initials: M
authors.lastname: Fardeau
authors.forename: Hans H
authors.initials: HH
authors.lastname: Goebel
authors.forename: Carsten G
authors.initials: CG
authors.lastname: Bönnemann
authors.forename: Thomas
authors.initials: T
authors.lastname: Voit
authors.forename: Bruno
authors.initials: B
authors.lastname: Eymard
authors.forename: Pascal
authors.initials: P
authors.lastname: Laforêt
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D015153:Blotting, Western; D051244:Caveolin 3 / Q000235:genetics / Q000378:metabolism; D003402:Creatine Kinase / Q000097:blood; D015444:Exercise; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D010641:Phenotype
chemical_list: D051244:Caveolin 3; D003402:Creatine Kinase