Caveolinopathies in Greece

Neurologist. 2015 Jul;20(1):8-12. doi: 10.1097/NRL.0000000000000036.


Introduction: 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.

Patients and 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.

MeSH terms

  • Adult
  • Aged
  • Caveolin 3 / deficiency*
  • Caveolin 3 / genetics
  • Creatine Kinase / metabolism
  • Family Health
  • Female
  • Greece
  • Humans
  • Male
  • Middle Aged
  • Muscle, Skeletal / pathology*
  • Muscular Dystrophies* / complications
  • Muscular Dystrophies* / genetics
  • Muscular Dystrophies* / pathology
  • Mutation / genetics*


  • CAV3 protein, human
  • Caveolin 3
  • Creatine Kinase