CRYAB and myopathy: This is the case of homozygous HSPB5 M1X and S21Afs*24 mutations, linked to infantile hypertonic myofibrillar myopathy (MFM), a severe and rare form of myopathy, often accompanied by cardiomyopathy and cataracts (Del Bigio et al., 2011; Ma et al., 2019; Lu et al., 2021).