‘Double Trouble’: Diagnostic Challenges in Duchenne Muscular Dystrophy in Patients with an Additional Hereditary Skeletal Dysplasia

Duchenne muscular dystrophy (DMD) is caused by mutations Dystrophin and affects 1 in 3600-6000 males. It is characterized by progressive weakness, leading to loss of ambulation, respiratory insufficiency, cardiomyopathy, and scoliosis. We describe the unusual phenotype of 3 patients with skeletal dy...

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Publicado en:Neuromuscul Disord
Autores principales: Donkervoort, Sandra, Schindler, Alice, Tesi-Rocha, Carolina, Schreiber, Allison, Leach, Meganne E., Dastgir, Jahannaz, Hu, Ying, Mankodi, Ami, Wagner, Kathryn R., Friedman, Neil R., Bönnemann, Carsten G.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2013
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5030769/
https://ncbi.nlm.nih.gov/pubmed/24070816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2013.08.003
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