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LDHCP syndrome

MIM.608056

Sunday 20 March 2005

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#