A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral Dysplasia (MAD). We report here the phenotype of a patient referred for severe metabolic syndrome an...

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Detalles Bibliográficos
Autores principales: Galant, Damien, Gaborit, Bénédicte, Desgrouas, Camille, Abdesselam, Ines, Bernard, Monique, Levy, Nicolas, Merono, Françoise, Coirault, Catherine, Roll, Patrice, Lagarde, Arnaud, Bonello-Palot, Nathalie, Bourgeois, Patrice, Dutour, Anne, Badens, Catherine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4931670/
https://www.ncbi.nlm.nih.gov/pubmed/27120622
http://dx.doi.org/10.3390/cells5020021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4931670/
https://www.ncbi.nlm.nih.gov/pubmed/27120622
http://dx.doi.org/10.3390/cells5020021

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