ロード中...

‘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...

詳細記述

保存先:
書誌詳細
出版年:Neuromuscul Disord
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: 2013
主題:
オンライン・アクセス: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
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!