A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report.
Botto
Nicoletta
N
Genetics Research Unit, Fondazione G Monasterio CNR-Regione Toscana, via Aurelia Sud, Massa, Italy. botto@ifc.cnr.it
Vittorini
Simona
S
Colombo
Maria Giovanna
MG
Biagini
Andrea
A
Paradossi
Umberto
U
Aquaro
Giovanni
G
Andreassi
Maria Grazia
MG
D002311:Cardiomyopathy, Dilated / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D016757:Death, Sudden, Cardiac; D004452:Echocardiography; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D006329:Heart Conduction System / Q000503:physiopathology; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D019656:Loss of Heterozygosity; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree
C494847:LMNA protein, human; D034904:Lamin Type A