Lmna H222P homozygous and heterozygous mutant models of Emery-Dreifuss muscular dystrophy: hearts
Summary:
Analysis of hearts of A-type lamin Lmna H222P homo-/heterozygous mutants. LMNA mutations lead to autosomal dominant and recessive Emery-Dreifuss muscular dystrophy which is characterized by dilated cardiomyopathy. Results provide insight into the role of LMNA in the development of cardiomyopathy.
Muchir A, Pavlidis P, Decostre V, Herron AJ et al. Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. J Clin Invest 2007 May;117(5):1282-93. PMID: 17446932
