LIMB-GIRDLE MUSCULAR DYSTROPHY WITH α-DYSTROGLYCAN DEFICIENCY AND MUTATIONS IN THE ISPD GENE

Defects in the posttranslational modification of alpha -dystroglycan ( alpha -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.[1,2] Recently, mutations in ISPD, encoding the isoprenoid synthase domain containing protein, have been described in Walker-Warburg syndrome and muscleeye-brain disease, 2 typical dystroglycanopathies.[3,4]