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  • Title: Isolated loss of gamma-sarcoglycan: diagnostic implications in autosomal recessive limb-girdle muscular dystrophies.
    Author: Vorgerd M, Gencik M, Mortier J, Epplen JT, Malin JP, Mortier W.
    Journal: Muscle Nerve; 2001 Mar; 24(3):421-4. PubMed ID: 11353430.
    Abstract:
    Mutations in the sarcoglycan (SG) genes cause a subset of limb-girdle muscular dystrophies (LGMD). We report a Spanish patient with progressive LGMD exhibiting an almost isolated loss of gamma-SG and a homozygous Delta521-T mutation in the gamma-SG gene. These results suggest that isolated loss of gamma-SG might remain undetected using only the alpha-SG antibody in routine muscle biopsy studies. Both alpha- and gamma-SG antibodies should be used in the diagnostic detection of patients with LGMD.
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