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Current Concepts in Dystrophinopathies

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Abstract

Dystrophinopathies comprise a group of hereditary muscle disorders characterized by progressive wasting and weakness of skeletal muscle, as a result of degeneration of muscle fibers, and can be distinguished by the mode of transmission, age at onset and pattern of muscle weakness. The range of phenotypes associated with the region Xp21 has been expanding since identification of the gene in 1987. The mild end of the spectrum includes the phenotype of the muscle cramps with myoglobinuria and isolated quadriceps myopathy, while at the severe end, there are progressive muscle diseases that are classified as Duchenne / Becker muscular dystrophy (DMD/BMD).

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Acknowledgments

Mr. Suresh, Dr. Chidambaranathan, Dr. Padma, Management of Kanchi Kamakoti CHILDS Trust and Apollo Hospitals, Apollo Hospitals Education and Research Foundation and CHILDS Trust Medical Research Foundation, Chennai and all the parents who have so willingly contributed to Muscular Dystrophy Association India.

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  1. Department of Pediatric Neurology, Kanchi Kamakoti CHILDS Trust and Apollo Children’s Hospitals, 12 A, Nageswara Road, Nungambakkam, Chennai, 600034, Tamil Nadu, India

    Venkataraman Viswanathan

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  1. Venkataraman Viswanathan
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Correspondence to Venkataraman Viswanathan.

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Viswanathan, V. Current Concepts in Dystrophinopathies. Indian J Pediatr 82, 172–178 (2015). https://doi.org/10.1007/s12098-014-1621-2

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