Article
Revised spectrum of mutations in sarcoglycanopathies.
European journal of human genetics : EJHG - 1 Jul 2008
Trabelsi Madiha, Kavian Niloufar, Daoud Fatma, Commere Virginie, Deburgrave Nathalie, Beugnet Caroline, Llense Stephane, Barbot Jean Claude, Vasson Aurélie, Kaplan Jean Claude, Leturcq France, Chelly Jamel
Abstract excerpt
To define the spectrum of mutations in alpha-, beta-, gamma-, and delta-sarcoglycan (SG) genes, we analyzed these genes in 69 probands with clinical and biological criteria compatible with the diagnosis of autosomal recessive limb-girdle muscular dystrophy. For 48 patients, muscle biopsies were available and multiplex western blot analysis of muscle proteins showed significant abnormalities of alpha- and...
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