Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes
K Fendri, M Kefi, F Hentati, R Amouri - Neuromuscular Disorders, 2006 - Elsevier
The sarcoglycanopathies are a group of autosomal recessive limb girdle muscular
dystrophies (AR-LGMD 2) characterised by mutations in gene encoding one of the
sarcoglycan subunits. Mutations in SGCA, SGCB, SGCG and SGCD genes are associated
with LGMD 2D, 2E, 2C and 2F, respectively. We report three Tunisian patients belonging to
the same consanguineous family sharing similar LGMD 2 phenotype but heterogeneous
sarcoglycans immunohistochemical patterns. Linkage analysis suggests linkage with the …
dystrophies (AR-LGMD 2) characterised by mutations in gene encoding one of the
sarcoglycan subunits. Mutations in SGCA, SGCB, SGCG and SGCD genes are associated
with LGMD 2D, 2E, 2C and 2F, respectively. We report three Tunisian patients belonging to
the same consanguineous family sharing similar LGMD 2 phenotype but heterogeneous
sarcoglycans immunohistochemical patterns. Linkage analysis suggests linkage with the …