Article
Coinheritance of Noonan syndrome and Becker muscular dystrophy.
Neuromuscular disorders : NMD - 1 Jan 2010
Dinopoulos Argirios, Papadopoulou Anna, Manta Panagiota, Kekou Kiki, Kanelopoulos Tassos, Fretzayas Andreas, Kitsiou Sofia
Abstract excerpt
We describe for the first time a case of a 9-year old boy with co-existence of dystrophinopathy and Noonan syndrome (NS). Although the patient has a severe muscular clinical phenotype, consistent with Duchenne muscular dystrophy (DMD), the diagnosis of Becker muscular dystrophy (BMD) was proposed based on family history (brother with BMD) and confirmed by muscle immunohistochemistry, and molecular study shown an...
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