LDHCP syndrome
MIM.608056
Synopsis
generalized acquired lipoatrophy with insulin-resistant diabetes
hypertriglyceridemia
hepatic steatosis
hypertrophic cardiomyopathy with valvular involvement
disseminated whitish papules
Etiology
germline mutations in the LMNA gene encoding lamin-A/C
References
Caux, F.; Dubosclard, E.; Lascols, O.; Buendia, B.; Chazouilleres, O.; Cohen, A.; Courvalin, J.-C.; Laroche, L.; Capeau, J.; Vigouroux, C.; Christin-Maitre, S. : A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. J. Clin. Endocr. Metab. 88: 1006-1013, 2003. PMID : 12629077