Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene

Defects in the posttranslational modification of α-dystroglycan (α-DG) have been implicated in clinically distinct dystroglycanopathies that present as congenital muscular dystrophies with multisystem involvement, limb-girdle muscular dystrophies (LGMDs), or a spectrum of intermediate phenotypes. Recently, mutations in ISPD, encoding the isoprenoid synthase domain containing protein, have been described in Walker-Warburg syndrome and muscle-eye-brain disease, 2 typical dystroglycanopathies.