Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population
M Vainzof, MR Passos-Bueno, RCM Pavanello… - Journal of the …, 1999 - Elsevier
Sarcoglycanopathies (SGPs) constitute a subgroup of limb-girdle muscular dystrophies
(LGMD), where the primary defect in one sarcoglycan (SG) glycoprotein (α-SG, β-SG, γ-SG
or δ-SG) results in a deficiency of the whole complex. Four genes, at 17q, 4q, 13q and 5q,
encode the four glycoproteins, and mutations in these genes cause diseases called
LGMD2D, 2E, 2C and 2F. To estimate the prevalence, relative proportions and clinical
features of SGPs, we have studied the SG proteins in muscle biopsies of 140 patients (from …
(LGMD), where the primary defect in one sarcoglycan (SG) glycoprotein (α-SG, β-SG, γ-SG
or δ-SG) results in a deficiency of the whole complex. Four genes, at 17q, 4q, 13q and 5q,
encode the four glycoproteins, and mutations in these genes cause diseases called
LGMD2D, 2E, 2C and 2F. To estimate the prevalence, relative proportions and clinical
features of SGPs, we have studied the SG proteins in muscle biopsies of 140 patients (from …
