A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene

Autor: Costa, C., Oliveira, J., Gonçalves, A., Santos, R., Bronze-da-Rocha, E., Rebelo, O., Pais, R.P., Fineza, I.
Zdroj: In Neuromuscular Disorders July 2013 23(7):557-561
Databáze: ScienceDirect