A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene

Autosomal recessive limb-girdle muscular dystrophies (LGMD type 2) are a group of clinically and genetically heterogeneous diseases with the main characteristics of weakness and wasting of the pelvic and shoulder girdle muscles. Among them are sarcoglycanopathies caused by mutations in at least four genes named SGCA, SGCB, SGCG and SGCD. Here we report a consanguineous Iranian family with two c...

Limb-girdle muscular dystrophy type 2A in Brazilian children.

UNLABELLED Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene. OBJECTIVE To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI findings in two of them. METHOD We retrospectively assessed medical records of 6 patients with mutation on CAPN3 gene. RESULTS All ...

Novel TCAP Mutation c.32C>A Causing Limb Girdle Muscular Dystrophy 2G

TCAP encoded telethonin is a 19 kDa protein, which plays an important role in anchoring titin in Z disc of the sarcomere, and is known to cause LGMD2G, a rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation. A total of 300 individuals with ARLGMD were recruited for this study. Among these we identified 8 clinically well character...

Limb-girdle Muscular Dystrophy

Limb-girdle Muscular Dystrophy