Mutations in Cav3 (caveolin) have been described in patients of LGMD1C with Pro105Leu being the most common.12 However, the particular mutation reported in our first case was a Cys72Trp mutation, which, has been reported in a single patient of 82 cases with muscular dystrophies of unknown genetic aetiology.13 Of note, heterozygous mutation at the same locus was also detected in a single case in a Brazilian cohort of 100 normal individuals who underwent genome sequencing.14 This raises the possibility that this might be a mutation with a low penetrance. This evidence concerns the gene CAV3 and muscular dystrophy.