Cargando…
Partial Lipodystrophy and LMNA p.R545H Variant
Laminopathies are disorders caused by LMNA gene mutations, which selectively affect different tissues and organ systems, and present with heterogeneous clinical and pathological traits. The molecular mechanisms behind these clinical differences and tissue specificity have not been fully clarified. W...
Autores principales: | Magno, Silvia, Ceccarini, Giovanni, Barison, Andrea, Fabiani, Iacopo, Giacomina, Alessandro, Gilio, Donatella, Pelosini, Caterina, Rubegni, Anna, Emdin, Michele, Gatti, Gian Luca, Santorelli, Filippo Maria, Sessa, Maria Rita, Santini, Ferruccio |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963176/ https://www.ncbi.nlm.nih.gov/pubmed/33803191 http://dx.doi.org/10.3390/jcm10051142 |
Ejemplares similares
-
Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation
por: Magno, Silvia, et al.
Publicado: (2020) -
Post-acute cardiac complications following SARS-CoV-2 infection in partial lipodystrophy due to LMNA gene p.R349W mutation
por: Ceccarini, G., et al.
Publicado: (2022) -
Circulating Levels of MiRNAs From 320 Family in Subjects With Lipodystrophy: Disclosing Novel Signatures of the Disease
por: Dattilo, Alessia, et al.
Publicado: (2022) -
SAT-087 Familial Generalized Lipodystrophy in Two Siblings Due to Homozygous p.Arg545His LMNA Mutation
por: Patni, Nivedita, et al.
Publicado: (2019) -
Metreleptin therapy in LMNA-linked lipodystrophies
por: Vatier, Camille, et al.
Publicado: (2015)