학술논문
Novel LMNAMutation in Atypical Werner Syndrome Presenting With Ischemic Disease
Document Type
Article
Author
Source
Stroke (Ovid); February 2009, Vol. 40 Issue: 2 pe11-e14, 4p
Subject
Language
ISSN
00392499; 15244628
Abstract
Laminopathies arise through mutations in genes encoding Lamin A/C (LMNA) or associated proteins. They cause 4 different groups of disorders with diverse severity and often overlapping features: diseases of striated muscle (leading to muscular or cardiac involvement), peripheral neuropathy, lipodystrophy syndromes, and accelerated aging disorders.