Associated Papers
Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.
Li C et al.
The Journal of Clinical Investigation, 2023
37317968 (PubMed )
Supplement: jci-133-168156-s148.xlsx › Table_S6__D_and_G_
Genetic modifiers of muscular dystrophy: implications for therapy.
Heydemann A et al.
Biochimica Et Biophysica Acta, 2007
A novel insert mutation in gamma-sarcoglycan gene leads to severe childhood autosomal recessive muscular dystrophy.
Lin S et al.
Journal of Neurology, 2002
Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile.
Bönnemann CG et al.
Neuromuscular Disorders : Nmd, 2002
Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.
Nowak KJ et al.
Neuromuscular Disorders : Nmd, 2000
[Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation].
Eirís-Puñal J et al.
Revista De Neurologia, 0
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