INPP5K and muscular dystrophy: In this study, we describe four patients affected by a form of muscular dystrophy related to a recurrent c.67G > A (p.Val23Met) amino acid substitution in INPP5K. The very rare c.67G > A variant is reported in gnomAD database only in two heterozygous carriers (out of 250,252 allele screened) from European non-Finnish population confirming for biallelic loss being necessary for disease.