Mutation Analysis in -Sarcoglycan (LGMD2F)

Limb-girdle muscular dystrophies (LGMDs) constitute a clinically and genetically heterogeneous group of inherited diseases. In the past few years, four autosomal recessive forms have been demonstrated to result from mutations in the genes encoding dystrophin-associated glycoproteins (1 –3 , and references therein). Mutations in -sarcoglycan (SG) (4 ,5 ) β -SG (6 ,7 ) γ -SG (8 ),δ -SG (9 ) cause LGMD2D, LGMD2E, LGMD2C, and LGMD2F, respectively. In these forms, when any SG is missing, the others are also markedly reduced, adding support to the hypothesis that these proteins function as a tetrameric unit, the SG complex (10 ).