title: Caveolinopathies in Greece.
abstract: BACKGROUND
  Mutations in the CAV3 gene are usually inherited in an autosomal dominant manner and lead to distinct disorders including limb-girdle muscular dystrophy 1C, rippling muscle disease, and isolated creatine kinase elevation.
  
  
  METHODS
  The features of the first patients with caveolin-3 deficiency from Greece are presented. Patients' phenotypes ranged from asymptomatic creatine kinase elevation to severe weakness of lower extremities. Clinical evaluation disclosed muscle hypertrophy in 2 patients, whereas percussion-induced muscle mounding was a consistent finding in all of them. Muscle histopathology was variable and unrelated with disease severity. The diagnosis was based on the immunohistochemical study of caveolin-3 expression and molecular analysis of the caveolin-3 gene.
  
  
  CONCLUSIONS
  Clinical manifestations and histochemical findings in caveolinopathy patients may be mild or nonspecific or overlapping with features of other muscular dystrophies. Immunohistochemical study of caveolin-3 expression on muscle biopsy should be routinely performed when investigating isolated hyperCKemia or undetermined myopathy especially in the presence of percussion-induced muscle mounding.
authors.affiliation: *1st Department of Neurology, School of Medicine, University of Athens, Eginition Hospital, Athens †Department of Medical Genetics, Athens University, "Aghia Sophia" Children's Hospital, Hellas, Greece.
authors.forename: Constantinos
authors.initials: C
authors.lastname: Papadopoulos
authors.forename: George K
authors.initials: GK
authors.lastname: Papadimas
authors.forename: Kyriaki
authors.initials: K
authors.lastname: Kekou
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Spengos
authors.forename: Maria
authors.initials: M
authors.lastname: Svigou
authors.forename: Sofia
authors.initials: S
authors.lastname: Kitsiou-Tzeli
authors.forename: Panagiota
authors.initials: P
authors.lastname: Manta
mesh_terms: D000328:Adult; D000368:Aged; D051244:Caveolin 3 / Q000172:deficiency* / Q000235:genetics; D003402:Creatine Kinase / Q000378:metabolism; D005192:Family Health; D005260:Female; D006115:Greece; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics / Q000473:pathology; D009154:Mutation / Q000235:genetics*
chemical_list: C417736:CAV3 protein, human; D051244:Caveolin 3; D003402:Creatine Kinase