Orphanet J Rare Dis. 2012 Jun 12;7:37. doi: 10.1186/1750-1172-7-37.
The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009. Here, we highlight the advantages and added value of such a multidisciplinary effort to understand pathogenesis, clinical aspects and try to find a cure for Emery-Dreifuss muscular dystrophy, Mandibuloacral dysplasia, Hutchinson-Gilford Progeria and forms of lamin-linked cardiomyopathy, neuropathy and lipodystrophy.
对于被统称为层粘连蛋白病的复杂遗传性疾病,需要采取协作的方法,这促使意大利的研究人员、遗传学家、医生和患者于 2009 年加入意大利层粘连蛋白病网络。在这里,我们强调了这种多学科努力在理解发病机制、临床方面以及试图寻找治疗肌营养不良症、下颌面骨发育不良、早老症和层粘连蛋白相关心肌病、神经病和脂肪营养不良方面的优势和附加值。