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Dystrophinopathies

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Atlas of Genetic Diagnosis and Counseling

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Abstract

The dystrophinopathies include a spectrum of muscle disease caused by mutations in the DMD gene that encodes the protein dystrophin. They are characterized by a spectrum of muscle disease that ranges from mild to severe. The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CPK) and muscle cramps with myoglobinuria and isolated quadriceps myopathy. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) when skeletal muscle is primarily affected and as X-linked dilated cardiomyopathy (XLDCM) when the heart is primarily affected. In this chapter, I will limit my discussion on DMD and BMD.

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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Chen, H. (2017). Dystrophinopathies. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_76

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_76

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