Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations
肌营养不良症伴有明显的肌营养不良蛋白缺乏症，通常是由原发性肌营养不良蛋白基因突变引起的。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2011.70
Cacciottolo, Mafalda; Numitone, Gelsomina; Aurino, Stefania; Caserta, Imma Rosaria; Fanin, Marina; Politano, Luisa; Minetti, Carlo; Ricci, Enzo; Piluso, Giulio; Angelini, Corrado; Nigro, Vincenzo
