Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype

Neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), can be clinically heterogeneous which may be explained by the co-inheritance of multiple genetic variants that modify the clinical course. In this study we examine variants in three genes in a family with one individual prese...

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Detalles Bibliográficos
Autores principales: Volkening, Kathryn, Farhan, Sali M. K., Kao, Jessica, Leystra-Lantz, Cheryl, Ang, Lee Cyn, McIntyre, Adam, Wang, Jian, Hegele, Robert A., Strong, Michael J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8192393/
https://www.ncbi.nlm.nih.gov/pubmed/33661429
http://dx.doi.org/10.1007/s11010-021-04103-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8192393/
https://www.ncbi.nlm.nih.gov/pubmed/33661429
http://dx.doi.org/10.1007/s11010-021-04103-7

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