Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with ‘de novo’ duplication of dystrophin gene

Autor: Romero, Norma Beatriz *, De Lonlay, Pascale, Llense, Stéphane, Leturcq, France, Touati, Guy, Urtizberea, J-Andoni, Saudubray, Jean Marie, Munnich, Arnold, Kaplan, Jean Claude, Récan, Dominique
Zdroj: In Neuromuscular Disorders 2001 11(5):494-498
Databáze: ScienceDirect