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 CPKEnzyme contenue dans les cellules musculaires, qui est libérée dans le sang en cas d’atteinte musculaire. 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.