Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
L Klinge, G Dekomien, A Aboumousa, R Charlton… - Neuromuscular …, 2008 - Elsevier
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
(α-, β-, γ-, δ-sarcoglycan) can be found in patients with limb-girdle muscular dystrophy 2C-F
(LGMD2C-F) and also in patients with Duchenne and Becker muscular dystrophy
(DMD/BMD). It has previously been suggested that different patterns of sarcoglycan …
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
(α-, β-, γ-, δ-sarcoglycan) can be found in patients with limb-girdle muscular dystrophy 2C-F
(LGMD2C-F) and also in patients with Duchenne and Becker muscular dystrophy
(DMD/BMD). It has previously been suggested that different patterns of sarcoglycan …
