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.

@article{Caux2003ANC,
  title={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.},
  author={Fr{\'e}d{\'e}ric Caux and Emmanuelle Dubosclard and Olivier Lascols and Brigitte Buendia and Olivier Chazouilleres and Amnon M. Cohen and J C.L. Courvalin and Liliane Laroche and Jacqueline Capeau and Corinne Vigouroux and Sophie Christin-Maitre},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2003},
  volume={88 3},
  pages={1006-13}
}
A-Type lamins, arising from the LMNA gene, are intermediate filaments proteins that belong to the lamina, a ubiquitous nuclear network. Naturally occurring mutations in these proteins have been shown to be responsible for several distinct diseases that display skeletal and/or cardiac muscle or peripheral nerve involvement. These include familial partial lipodystrophy of the Dunnigan type and the mandibuloacral dysplasia syndrome. The pathophysiology of this group of diseases, often referred to… CONTINUE READING

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Complex phenotype linked to a mutation in exon 11 of the lamin A/C gene: Hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes.

Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology • 2017
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