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Year : 1995  |  Volume : 43  |  Issue : 1  |  Page : 42--44

Isolated manifesting carrier of Duchenne muscular dystrophy.

Department of Neurology, All Institute of Medical Sciences, New Delhi - 110029, India

Correspondence Address:
MV Padma
Department of Neurology, All Institute of Medical Sciences, New Delhi - 110029
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Source of Support: None, Conflict of Interest: None

PMID: 29542474

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A manifesting female carrier of Duchenne muscular dystrophy (DMD) with no prior family history of DMD is described. She presented with proximal muscle weakness, enlarged calf muscles and an elevated serum creatine phosphokinase (CPK). Histological myopathic changes and immunoperoxidase examination for dystrophy in muscle biopsy with antidystrophin serum proved to be valuable in the diagnosis of DMD in a manifesting female carrier.

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Online since 20th March '04
Published by Wolters Kluwer - Medknow