@article{cb6baea0a02c11dd889c000ea68e967b,
title = "Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.",
abstract = "We identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between -2.5 and -6.0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC.",
keywords = "Actins, Adult, Aged, Aged, 80 and over, Base Sequence, Cardiomyopathy, Dilated, Cardiomyopathy, Hypertrophic, DNA Primers, Exons, Female, Humans, Linkage (Genetics), Lod Score, Male, Middle Aged, Models, Molecular, Myocardial Contraction, Pedigree, Point Mutation, Protein Conformation",
author = "J Mogensen and Klausen, {I C} and Pedersen, {A K} and H Egeblad and P Bross and Kruse, {Torben A} and N Gregersen and Hansen, {P S} and U Baandrup and Borglum, {A D}",
year = "1999",
doi = "10.1172/JCI6460",
language = "English",
volume = "103",
pages = "R39--43",
journal = "Journal of Clinical Investigation",
issn = "0021-9738",
publisher = "American Society for Clinical Investigation",
number = "10",
}