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Orphanet J Rare Dis. 2012 Jun 12;7:37.

The empowerment of translational research: lessons from laminopathies.

Abstract

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.

PMID:
22691392
[PubMed - indexed for MEDLINE]
PMCID:
PMC3458975
Free PMC Article
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