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March 1, 2003The Journal of Clinical Endocrinology & Metabolism

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

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Authors

FCF. CauxAssistance Publique – Hôpitaux de ParisEDEmmanuelle DubosclardInsermOLOlivier LascolsInserm

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Cite This Study

Caux et al. (2003) studied this question.

synapsesocial.com/papers/6a71e2f7f44fa9f079df8f5fhttps://doi.org/10.1210/jc.2002-021506
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy2002 · 140 citations
  2. 2Skeletal muscle pathology in autosomal dominant Emery‐Dreifuss muscular dystrophy with lamin A/C mutations2001 · 126 citations
  3. 3Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene2001 · 246 citations
  4. 4Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy2001 · 118 citations
  5. 5Cardiac findings in generalized lipodystrophy*1996 · 49 citations