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]
Dystrophinopathy refers to a spectrum of diseases due to mutations in the DMD gene, which encodes for the dystrophin protein found in muscle. The severe...
progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy. The cause is mutations and deletions in any of the 79 exons encoding...
dystrophin, helping to distinguish Duchenne muscular dystrophy from milder dystrophinopathy phenotypes. Over the past several years, DNA tests have been developed...
Edward Clinton (December 2010). "Pseudometabolic presentation of dystrophinopathy due to a missense mutation". Muscle & Nerve. 42 (6): 975–979. doi:10...
Below is a partial list of neuromuscular disorders. Duchenne muscular dystrophy Becker muscular dystrophy DMD-associated dilated cardiomyopathy Limb girdle...
has media related to Dystrophin. GeneReviews/NCBI/NIH/UW entry on Dystrophinopathies Dystrophin at the U.S. National Library of Medicine Medical Subject...
dystrophin protein produced by eteplirsen may cause a less severe form of dystrophinopathy, much like Becker muscular dystrophy. Eteplirsen's proposed mechanism...
Schoch K, Smith EC (December 2010). "Pseudometabolic presentation of dystrophinopathy due to a missense mutation". Muscle & Nerve. 42 (6): 975–979. doi:10...
the muscle. Causes of pseudohypertrophy include muscle diseases: dystrophinopathies, limb-girdle muscular dystrophies, metabolic myopathy, Dystrophic...
Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y, Yoshida M (1998). "From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy"...
(December 2005). "Mutation spectrum leading to an attenuated phenotype in dystrophinopathies". European Journal of Human Genetics. 13 (12): 1254–1260. doi:10.1038/sj...
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