Description of a French cohort of patients with caveolinopathy

A group of French clinicians and geneticists, including experts from the Institute of Myology, are reporting the clinical and biological data from a large cohort of patients diagnosed with CAV3-related myopathy.

  • twenty-three patients from 16 different families were included in the study,
  • the average follow-up was 24 years,
  • exercise intolerance was the most common symptom, as was the presence of calf hypertrophy and chronic elevation of serum CPK levels,
  • muscle rippling was absent in a third of patients and, in general, no cardio-respiratory complications were observed in this cohort,
  • no genotype-phenotype correlation could be established.


Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort. Berling E, Verebi C, Venturelli N et al. Eur J Neurol. 2023 May.