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Journal Articles Orphanet Journal of Rare Diseases Year : 2015

A common French-Italian laminopathy registry – update & future prospects


In front of the wide clinical and genetic heterogeneity of the laminopathies, the first task of the French Network on EDMD and other related nuclear envelope related diseases, has been to set up in 2000, a mutation database for LMNA and EMD mutations. We selected the Universal Mutation Database tool (UMD) developed by Christophe Beroud (http://www.umd.be,[1]) and set up the UMD-LMNA database that compiles genetic and associated main clinical features of both in-house identified cases, those submitted to us by other partners involved in LMNA gene analysis, and also all mutated subjects reported in the literature (http://www.umd.be/LMNA/). To date, the UMD-LMNA database comprises 510 different LMNA mutations identified in over 2700 individuals, out of which 60% presenting with a laminopathy of the striated muscles (cardiomyopathies+/-muscular dystrophies), 14% with a laminopathy affecting the adipose tissue (metabolic syndromes +/- partial lipodystrophies) and 5.2% with premature ageing syndrome.
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hal-01227847 , version 1 (12-11-2015)





Gisèle Bonne, Rabah Ben Yaou. A common French-Italian laminopathy registry – update & future prospects. Orphanet Journal of Rare Diseases, 2015, 10 (Suppl 2), pp.O31. ⟨10.1186/1750-1172-10-S2-O31⟩. ⟨hal-01227847⟩
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