Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene

Patients with Dunnigan disease (FPLD2) with a pathogenic variant affecting exon 8 of the LMNA gene are considered to have the classic disease, whereas those with variants in other exons manifest the “atypical” disease. The aim of this study was to investigate the degree of variable expressivity when...

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Detalles Bibliográficos
Autores principales: Araújo-Vilar, David, Sánchez-Iglesias, Sofía, Castro, Ana I., Cobelo-Gómez, Silvia, Hermida-Ameijeiras, Álvaro, Rodríguez-Carnero, Gemma, Casanueva, Felipe F., Fernández-Pombo, Antía
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8002937/
https://www.ncbi.nlm.nih.gov/pubmed/33803652
http://dx.doi.org/10.3390/jcm10061259

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8002937/
https://www.ncbi.nlm.nih.gov/pubmed/33803652
http://dx.doi.org/10.3390/jcm10061259

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