A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features

Dunnigan-type partial lipodystrophy (familial partial lipodystrophy, Dunnigan variety, FPLD2) can be caused by LMNA mutations. We identified a novel heterozygous LMNA mutation, P485R, in a patient referred to the International Registry of Werner Syndrome because of features consistent with that of p...

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Detalhes bibliográficos
Main Authors: Saha, B., Lessel, D., Hisama, F.M., Leistritz, D.F., Friedrich, K., Martin, G.M., Kubisch, C., Oshima, J.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2010
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2957848/
https://ncbi.nlm.nih.gov/pubmed/21031082
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000320166
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