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Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules

MedGen UID:
893392
•Concept ID:
CN239184
•
Disease or Syndrome

Recent clinical studies

Etiology

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.
Caux F, Dubosclard E, Lascols O, Buendia B, Chazouillères O, Cohen A, Courvalin JC, Laroche L, Capeau J, Vigouroux C, Christin-Maitre S
J Clin Endocrinol Metab 2003 Mar;88(3):1006-13. doi: 10.1210/jc.2002-021506. PMID: 12629077

Diagnosis

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.
Caux F, Dubosclard E, Lascols O, Buendia B, Chazouillères O, Cohen A, Courvalin JC, Laroche L, Capeau J, Vigouroux C, Christin-Maitre S
J Clin Endocrinol Metab 2003 Mar;88(3):1006-13. doi: 10.1210/jc.2002-021506. PMID: 12629077

Clinical prediction guides

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.
Caux F, Dubosclard E, Lascols O, Buendia B, Chazouillères O, Cohen A, Courvalin JC, Laroche L, Capeau J, Vigouroux C, Christin-Maitre S
J Clin Endocrinol Metab 2003 Mar;88(3):1006-13. doi: 10.1210/jc.2002-021506. PMID: 12629077

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