A novel γ-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy

Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting

“…When compared to L194S γ-SG, G69R γ-SG had a more deleterious effect on membrane localization as judged by its absence from the cell surface. This result is in agreement with the observations that the G69R mutation completely eliminates the expression of γ-SG from the sarcolemma in muscle biopsies [40], whereas the L194S mutation is always associated with a milder phenotype [41]. Overall, these findings indicate that the region adjacent to the transmembrane domain of γ-SG is also critical for sarcoglycan localization to the cell surface and that our heterologous expression system could be a useful method to explore the genotype-phenotype correlation in LGMD.…”

Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations

“…In addition, the staining pattern of ␤-and ␥-SG varied. 5,9,15,16 In our patients, the staining intensity was almost intact for ␦-SG, then decreased in order from ␤-SG to ␣-SG, showing a faint and patchy pattern and no residual staining in ␥-SG. Preserved ␦-SG staining in ␥-sarcoglycanopathy has also been reported.…”

MRI in sarcoglycanopathies: a large international cohort study

“…However, only few patients with sarcoglycanopathy have been described with muscle imaging so far,10 11 mostly LGMD2D7 12 13 or LGMD2C 14. A pattern of involvement in sarcoglycanopathies, proposed in a more recent study by ten Dam et al 15 as derived from a literature search (ie, predominant involvement of anterior thigh compartment, especially vastus intermedius; predominant involvement of soleus and peroneal group at the lower leg level; frequent hypertrophy of sartorius and gracilis), was proven to be quite specific but insensitive (22%) to distinguish 11 CT scans of sarcoglycanopathies from other dystrophies, and the authors advised assessments of larger groups.…”