SQSTM1 and osteoporosis: As the vast majority of patients with the p62 P392L-associated PDB are heterozygous, although rare homozygous or compound heterozygous cases with severe disease have been reported (Collet et al., 2007; Eekhoff et al., 2004; Laurin et al., 2001, 2002; Morissette et al., 2006), it is unclear whether our findings could be translated to a potentially increased risk of osteoporosis in the carriers of the p62 P392L mutation.