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  • Title: Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostaining.
    Author: Chevron MP, Tuffery S, Echenne B, Demaille J, Claustres M.
    Journal: Neuromuscul Disord; 1992; 2(1):47-50. PubMed ID: 1525558.
    Abstract:
    Becker muscular dystrophy (BMD) often results from in-frame mutations of the dystrophin gene, leading to the production of an altered-sized protein. We examined the expression of dystrophin in a BMD patient and in his asymptomatic mother by Western blot and immunofluorescence. The combination of these techniques allowed us to demonstrate the presence of two different dystrophins, normal-sized or reduced-sized in the muscular fibers of the asymptomatic carrier. This result emphasizes the value of dystrophin analysis for carrier detection and genetic counselling of families with Becker muscular dystrophy.
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