leica特约代理商|NCL-g-SARC gama-sar

-Sarcoglycan Mutations

Genetic defects of the sarcoglycan (SG) complex (sarcoglycanopathies) are found in patients with autosomal recessive muscular dystrophies (1 –6 ). αSG (50 kDa dystrophin-associated glycoprotein, adhalin) is involved in LGMD2D, mapped on 17

Mutation Analysis in -Sarcoglycan (LGMD2F)

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

Mutation Detection in - and -Sarcoglycan (LGMD2E and LGMD2C)

Direct mutation analysis in the genes for β- and γ- sarcoglycan (SG) is performed in a patient in whom a type of autosomal recessive limb-girdle muscular dystrophy (LGMD) affecting the SG complex is suspected. Ideally, this suspicion