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.