Article
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Neuromuscular disorders : NMD - 1 Dec 2008
Klinge Lars, Dekomien Gabriele, Aboumousa Ahmed, Charlton Richard, Epplen Jörg T, Barresi Rita, Bushby Kate, Straub Volker
Abstract excerpt
Muscle immunoanalysis of the sarcoglycan complex is an important part of the diagnostic evaluation of muscle biopsies in patients with autosomal recessive limb-girdle muscular dystrophy. Reduced or absent sarcolemmal expression of one or all of the four sarcoglycans (alpha-, beta-, gamma-, delta-...
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