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Updated: Feb 13, 2026

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Isolated manifesting carrier of Duchenne muscular dystrophy
M V Padma1, S Jain1, C Sarkar1
1Department of Neurology, All Institute of Medical Sciences, New Delhi - 110029, India.
Abstract:
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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