Dystrophinopathy
Dystrophinopathy | |
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Classification and external resources | |
Specialty | Neurology |
Patient UK | Dystrophinopathy |
Dystrophinopathy refers to a spectrum of diseases due to mutations in the DMD gene, which encodes for the dystrophin protein found in muscle.[1][2][3] The severe end of the spectrum includes Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and DMD-associated dilated cardiomyopathy.[1][2][3] The mild end of the spectrum includes asymptomatic increases in serum creatine kinase and muscle cramps with myoglobinuria.[1][2][3] Because dystrophin is located on the X chromosome, dystrophinopathy mainly affects males, whereas females range from being carriers,[2] to having delayed-onset and mild disease,[3] to having severe DMD.[1]
References
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