Nuclear Abnormalities in <i>LMNA</i> p.(Glu2Lys) Variant Segregating with <i>LMNA</i>-Associated Cardiocutaneous Progeria Syndrome

Nuclear Abnormalities in <i>LMNA</i> p.(Glu2Lys) Variant Segregating with <i>LMNA</i>-Associated Cardiocutaneous Progeria Syndrome

The <i>LMNA</i> gene encodes lamin A and lamin C, which play important roles in nuclear organization. Pathogenic variants in <i>LMNA</i> cause laminopathies, a group of disorders with diverse phenotypes. There are two main groups of disease-causing variants: missense variants...

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Bibliographic Details
Main Authors: Matheus V. M. B. Wilke, Myra Wick, Tanya L. Schwab, Rodrigo Tzovenos Starosta, Karl J. Clark, Heidi M. Connolly, Eric W. Klee
Format: Article
Language:English
Published: MDPI AG 2024-01-01
Series:Genes
Subjects:
atypical progeroid syndrome
<i>LMNA</i>
mitral valve calcification
nuclear abnormalities
case report
Online Access:https://www.mdpi.com/2073-4425/15/1/112

Internet

https://www.mdpi.com/2073-4425/15/1/112

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