• Indian J Pathol Microbiol · Jul 2004

    Utility of dystrophin and utrophin staining in childhood muscular dystrophy.

    • Challa Sundaram, Bheemaraju Vydehi, Kanikannan Meena, and Jagarlapudi Murthy.
    • Departments of Pathology and Neurology, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad and Institute of Neurological Sciences, Care Hospital, Nampally, Hyderabad. challa_sundaram@yahoo.com
    • Indian J Pathol Microbiol. 2004 Jul 1; 47 (3): 367-9.

    AbstractTo determine the utility of dystrophin and utrophin staining in the differential diagnosis of childhood muscular dystrophy. Fifty muscle biopsies of histologically confirmed cases of childhood muscular dystrophy, below 16 years of age, were stained immunohistochemically for dystrophin and utrophin. All the 30 muscle biopsies of patients with Duchenne muscular dystrophy (DMD) showed all or majority of muscle fibers deficient for dystrophin and positive for utrophin. In the 4 female DMD carriers there was mosaic pattern of staining for dystrophin and reciprocal positivity for utrophin. All the muscle biopsies of patients with other childhood onset muscular dystrophies were positive for dystrophin and negative for utrophin. This study shows that dystrophin staining differentiates DMD and DMD carriers from other childhood muscular dystrophies and utrophin staining is of no added value. Utrophin up-regulation may compensate for structural deficiency in dystrophic muscle.

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