Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype

Autor: Yis, Uluc, Uyanik, Gökhan, Heck, Pinar Bambul, Smitka, Martin, Nobel, Hannes, Ebinger, Friedrich, Dirik, Eray, Feng, Lucy, Kurul, Semra H., Brocke, Katja, Unalp, Aycan, Özer, Erdener, Cakmakci, Handan, Sewry, Caroline, Cirak, Sebahattin, Muntoni, Francesco, Hehr, Ute, Morris-Rosendahl, Deborah J.
Zdroj: In Neuromuscular Disorders 2011 21(1):20-30
Databáze: ScienceDirect