Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene

Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene

Abstract Background Mutations in LMNA gene, encoding Lamin A/C, cause a diverse array of phenotypes, collectively referred to as laminopathies. The most common manifestation is dilated cardiomyopathy (DCM), occurring in conjunction with variable skeletal muscle involvement but without involvement of...

Full description

Bibliographic Details
Main Author: Ali J. Marian
Format: Article
Language:English
Published: BMC 2017-10-01
Series:BMC Medical Genetics
Subjects:
Progeria
Lamin A/C
Degenerative heart disease
Cardiomyopathy
Valvular disease
Genetics
Online Access:http://link.springer.com/article/10.1186/s12881-017-0480-x

Internet

http://link.springer.com/article/10.1186/s12881-017-0480-x

Similar Items